A candidate gene for familial Mediterranean fever View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-09

AUTHORS

The French FMF Consortium, Alain Bernot, Christian Clepet, Corinne Dasilva, Catherine Devaud, Jean-Louis Petit, Christophe Caloustian, Corinne Cruaud, Delphine Samson, Françoise Pulcini, Jean Weissenbach, Roland Heilig, Cécile Notanicola, Cécile Domingo, Michael Rozenbaum, Eldad Benchetrit, Rezzan Topaloglu, Marie Dewalle, Christiane Dross, Philippe Hadjari, Madeleine Dupont, Jacques Demaille, Isabelle Touitou, Nizar Smaoui, Brigitte Nedelec, Jean-Philippe Méry, Habiba Chaabouni, Marc Delpech, Gilles Grateau

ABSTRACT

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease. More... »

PAGES

25-31

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0997-25

DOI

http://dx.doi.org/10.1038/ng0997-25

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009290050

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9288094


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Butyrophilins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cattle", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosome Mapping", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Artificial, Yeast", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cosmids", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cytoskeletal Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Primers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Familial Mediterranean Fever", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "France", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Recessive", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Markers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Variation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heterozygote", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mediterranean Region", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Membrane Glycoproteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microsatellite Repeats", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Point Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymerase Chain Reaction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein Biosynthesis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pyrin", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Reproducibility of Results", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Alignment", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Homology, Amino Acid", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Transcription, Genetic", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "familyName": "Consortium", 
        "givenName": "The French FMF", 
        "type": "Person"
      }, 
      {
        "familyName": "Bernot", 
        "givenName": "Alain", 
        "type": "Person"
      }, 
      {
        "familyName": "Clepet", 
        "givenName": "Christian", 
        "id": "sg:person.01352724246.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352724246.51"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Dasilva", 
        "givenName": "Corinne", 
        "type": "Person"
      }, 
      {
        "familyName": "Devaud", 
        "givenName": "Catherine", 
        "type": "Person"
      }, 
      {
        "familyName": "Petit", 
        "givenName": "Jean-Louis", 
        "type": "Person"
      }, 
      {
        "familyName": "Caloustian", 
        "givenName": "Christophe", 
        "id": "sg:person.0715412071.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715412071.51"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Cruaud", 
        "givenName": "Corinne", 
        "type": "Person"
      }, 
      {
        "familyName": "Samson", 
        "givenName": "Delphine", 
        "type": "Person"
      }, 
      {
        "familyName": "Pulcini", 
        "givenName": "Fran\u00e7oise", 
        "type": "Person"
      }, 
      {
        "familyName": "Weissenbach", 
        "givenName": "Jean", 
        "type": "Person"
      }, 
      {
        "familyName": "Heilig", 
        "givenName": "Roland", 
        "type": "Person"
      }, 
      {
        "familyName": "Notanicola", 
        "givenName": "C\u00e9cile", 
        "type": "Person"
      }, 
      {
        "familyName": "Domingo", 
        "givenName": "C\u00e9cile", 
        "type": "Person"
      }, 
      {
        "familyName": "Rozenbaum", 
        "givenName": "Michael", 
        "type": "Person"
      }, 
      {
        "familyName": "Benchetrit", 
        "givenName": "Eldad", 
        "type": "Person"
      }, 
      {
        "familyName": "Topaloglu", 
        "givenName": "Rezzan", 
        "id": "sg:person.0611644740.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611644740.41"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Dewalle", 
        "givenName": "Marie", 
        "type": "Person"
      }, 
      {
        "familyName": "Dross", 
        "givenName": "Christiane", 
        "type": "Person"
      }, 
      {
        "familyName": "Hadjari", 
        "givenName": "Philippe", 
        "type": "Person"
      }, 
      {
        "familyName": "Dupont", 
        "givenName": "Madeleine", 
        "type": "Person"
      }, 
      {
        "familyName": "Demaille", 
        "givenName": "Jacques", 
        "type": "Person"
      }, 
      {
        "familyName": "Touitou", 
        "givenName": "Isabelle", 
        "type": "Person"
      }, 
      {
        "familyName": "Smaoui", 
        "givenName": "Nizar", 
        "id": "sg:person.0623314152.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0623314152.32"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Nedelec", 
        "givenName": "Brigitte", 
        "id": "sg:person.01177762444.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177762444.48"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "M\u00e9ry", 
        "givenName": "Jean-Philippe", 
        "type": "Person"
      }, 
      {
        "familyName": "Chaabouni", 
        "givenName": "Habiba", 
        "id": "sg:person.01272345462.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272345462.76"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Delpech", 
        "givenName": "Marc", 
        "type": "Person"
      }, 
      {
        "familyName": "Grateau", 
        "givenName": "Gilles", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/0968-0004(87)90231-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000250732"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320340206", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000267232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320340206", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000267232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.6.9.807", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000850162"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1997.4629", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005021369"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/17.21.8543", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005945600"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/24.6.1105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007673395"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0888-7543(95)80219-c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011692949"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0888-7543(95)80219-c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011692949"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1994.1664", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013065522"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-2836(05)80360-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013618994"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/17.7.2503", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018135284"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/22.24.5156", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021104151"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0968-0004(96)30040-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021515232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320550313", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021849634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320550313", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021849634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0895-477", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025348794", 
          "https://doi.org/10.1038/ng0895-477"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/21.8.1965", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027848779"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/23.24.4992", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029853192"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(91)90418-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035716498"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00210422", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043005418", 
          "https://doi.org/10.1007/bf00210422"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00210422", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043005418", 
          "https://doi.org/10.1007/bf00210422"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.85.8.2733", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043687641"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0888-7543(90)90491-c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046245784"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/1.8.587", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059643984"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1128/mcb.7.4.1378", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062713763"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078760027", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/j.1460-2075.1993.tb05636.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1082463011"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082759330", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082891861", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082937035", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082945080", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1997-09", 
    "datePublishedReg": "1997-09-01", 
    "description": "Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng0997-25", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "17"
      }
    ], 
    "name": "A candidate gene for familial Mediterranean fever", 
    "pagination": "25-31", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "2c413bcfa4c89f3d1dd7ff794d16e89124b805774e8e72f15cbb2c525aba2a3a"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "9288094"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng0997-25"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1009290050"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng0997-25", 
      "https://app.dimensions.ai/details/publication/pub.1009290050"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T23:13", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8693_00000435.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng0997-25"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng0997-25'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng0997-25'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng0997-25'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng0997-25'


 

This table displays all metadata directly associated to this object as RDF triples.

423 TRIPLES      21 PREDICATES      90 URIs      54 LITERALS      42 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng0997-25 schema:about N0468530c17754007b22e18623851917e
2 N064f65e1966641429c06b91717eca824
3 N0c2032054df04969b7b6119efdf99e7c
4 N111f27919a8d498dacfab3134ff51573
5 N11909abad7634d7aa8535f34a7fa62c7
6 N18c3d5fc94e34e85b40f24276e91e91c
7 N234e914fd2e348cf911853f51f627898
8 N263acba9c1344461bdf469a962c0fd84
9 N3cafddd48aa34121becd5d25839b8011
10 N446a2b33bb164754bb1377c274153d95
11 N46f8a2fa599e4d638aad006964c1449b
12 N4ca61b4acf4c459ca910ba49e2a07564
13 N562bc3a4080d43d7a52952f6d3784d1d
14 N619425b76d7d4ba7b67a9cdc79b0def8
15 N659606a320cf47b48c167b1188c20c53
16 N81c96af336a64f6fa55a1152a5c9e362
17 N83c520cbc7f8426e924f5b2b79ebf967
18 N86930e3a17254b3490c4c8c55cba587e
19 N8841a8e0cdaf40d39a211886d3161020
20 N9c717283485f4f9a934364fa22323ee2
21 Na85f7b2249014f1fba8a38d1ffdc0519
22 Na87b429801b4436baa3168859fb470a6
23 Nab9d456e3a31477cbdf08d34cc862a8e
24 Nae5d5351898a4aa79e65001b2e51cc74
25 Naea37c2d412f449c8484793886c805a3
26 Nbad8e53a0171429e80519ea88db4e09a
27 Nc4d4f71b5ba847c8841787ba9bf10d9c
28 Nc9397ac52b8243efa4d868f1dedcdafa
29 Ncaeeca7ce94644fb84ac5e3efe025b63
30 Nd3bb9769a62b431182b63f58520d940c
31 Ndec917f97f064e9ab2bd06f1e54e853c
32 Ndef78caed7534b25934dde8d982553ec
33 Nfaebfd2c24ff4d0fbfb959d4c2dbe4ce
34 anzsrc-for:06
35 anzsrc-for:0604
36 schema:author Nae8d72235574469fa2a43696e999a8a5
37 schema:citation sg:pub.10.1007/bf00210422
38 sg:pub.10.1038/ng0895-477
39 https://app.dimensions.ai/details/publication/pub.1078760027
40 https://app.dimensions.ai/details/publication/pub.1082759330
41 https://app.dimensions.ai/details/publication/pub.1082891861
42 https://app.dimensions.ai/details/publication/pub.1082937035
43 https://app.dimensions.ai/details/publication/pub.1082945080
44 https://doi.org/10.1002/ajmg.1320340206
45 https://doi.org/10.1002/ajmg.1320550313
46 https://doi.org/10.1002/j.1460-2075.1993.tb05636.x
47 https://doi.org/10.1006/geno.1994.1664
48 https://doi.org/10.1006/geno.1997.4629
49 https://doi.org/10.1016/0092-8674(91)90418-x
50 https://doi.org/10.1016/0888-7543(90)90491-c
51 https://doi.org/10.1016/0888-7543(95)80219-c
52 https://doi.org/10.1016/0968-0004(87)90231-3
53 https://doi.org/10.1016/s0022-2836(05)80360-2
54 https://doi.org/10.1016/s0968-0004(96)30040-6
55 https://doi.org/10.1073/pnas.85.8.2733
56 https://doi.org/10.1093/hmg/1.8.587
57 https://doi.org/10.1093/nar/17.21.8543
58 https://doi.org/10.1093/nar/17.7.2503
59 https://doi.org/10.1093/nar/21.8.1965
60 https://doi.org/10.1093/nar/22.24.5156
61 https://doi.org/10.1093/nar/23.24.4992
62 https://doi.org/10.1093/nar/24.6.1105
63 https://doi.org/10.1101/gr.6.9.807
64 https://doi.org/10.1128/mcb.7.4.1378
65 schema:datePublished 1997-09
66 schema:datePublishedReg 1997-09-01
67 schema:description Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by attacks of fever and serositis. In this paper, we define a minimal co-segregating region of 60 kb containing the FMF gene (MEFV) and identify four different transcript units within this region. One of these transcripts encodes a new protein (marenostrin) related to the ret-finger protein and to butyrophllin. Four conservative missense variations co-segregating with FMF have been found within the MEFV candidate gene in 85% of the carrier chromosomes. These variations, which cluster at the carboxy terminal domain of the protein, were not present in 308 control chromosomes, including 162 validated non-carriers. We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.
68 schema:genre research_article
69 schema:inLanguage en
70 schema:isAccessibleForFree false
71 schema:isPartOf N54c2f2914a1a473281806512c9a4df5b
72 N9a1dfd0b4774449dbaf8b451acb2a539
73 sg:journal.1103138
74 schema:name A candidate gene for familial Mediterranean fever
75 schema:pagination 25-31
76 schema:productId N12bb7f95720e4f9ab9a8eb50a8f9c66b
77 N235a6544cd324c778581cea046c2fd43
78 Nc268aef4b2cf4fb1a24264ab1f385968
79 Ncbd55554c9a54cdfa6a92ec9f4598aa9
80 Nec021e1a9f154bd4ba11386eca70242c
81 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009290050
82 https://doi.org/10.1038/ng0997-25
83 schema:sdDatePublished 2019-04-10T23:13
84 schema:sdLicense https://scigraph.springernature.com/explorer/license/
85 schema:sdPublisher N147e944ac0c941ae979579e6ce137bb5
86 schema:url http://www.nature.com/articles/ng0997-25
87 sgo:license sg:explorer/license/
88 sgo:sdDataset articles
89 rdf:type schema:ScholarlyArticle
90 N02e9b70c88fb4a7794fa25ca591c9656 schema:familyName Méry
91 schema:givenName Jean-Philippe
92 rdf:type schema:Person
93 N0468530c17754007b22e18623851917e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Cattle
95 rdf:type schema:DefinedTerm
96 N059b684808f04505a4e7dc5b72761193 rdf:first N2862b9b0dfda4908b4bac16328280487
97 rdf:rest N75f70d9cdbf24a1c834df165a2af83b3
98 N064f65e1966641429c06b91717eca824 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Familial Mediterranean Fever
100 rdf:type schema:DefinedTerm
101 N0c2032054df04969b7b6119efdf99e7c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Chromosome Mapping
103 rdf:type schema:DefinedTerm
104 N0e83c01c93c64a42b4ea26be5ce487c7 schema:familyName Hadjari
105 schema:givenName Philippe
106 rdf:type schema:Person
107 N111f27919a8d498dacfab3134ff51573 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Transcription, Genetic
109 rdf:type schema:DefinedTerm
110 N11909abad7634d7aa8535f34a7fa62c7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Male
112 rdf:type schema:DefinedTerm
113 N12bb7f95720e4f9ab9a8eb50a8f9c66b schema:name readcube_id
114 schema:value 2c413bcfa4c89f3d1dd7ff794d16e89124b805774e8e72f15cbb2c525aba2a3a
115 rdf:type schema:PropertyValue
116 N13c904ab977b4b5792f0e5eff7f97ce9 rdf:first N6080a74a5fe64374b8ce823387c6efaf
117 rdf:rest N63ce3d9a3b3d46e183a1d31c34e95467
118 N13f4d72eb9de44beb8f24d034d8d420d schema:familyName Devaud
119 schema:givenName Catherine
120 rdf:type schema:Person
121 N147e944ac0c941ae979579e6ce137bb5 schema:name Springer Nature - SN SciGraph project
122 rdf:type schema:Organization
123 N17fc6d98d9694aff8e60d9ba4d6b1439 rdf:first sg:person.0623314152.32
124 rdf:rest Na1d90667c6384eb8a73c8033e6851bfb
125 N18c3d5fc94e34e85b40f24276e91e91c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
126 schema:name Polymerase Chain Reaction
127 rdf:type schema:DefinedTerm
128 N19f2b13bcd0c457089b95cf9002f9d26 schema:familyName Bernot
129 schema:givenName Alain
130 rdf:type schema:Person
131 N22639a069be04e6b9ecb6760109d0801 rdf:first N0e83c01c93c64a42b4ea26be5ce487c7
132 rdf:rest N61d39a63954a430eba8489b602e3a16a
133 N234e914fd2e348cf911853f51f627898 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Female
135 rdf:type schema:DefinedTerm
136 N235a6544cd324c778581cea046c2fd43 schema:name pubmed_id
137 schema:value 9288094
138 rdf:type schema:PropertyValue
139 N263acba9c1344461bdf469a962c0fd84 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Chromosomes, Artificial, Yeast
141 rdf:type schema:DefinedTerm
142 N2862b9b0dfda4908b4bac16328280487 schema:familyName Benchetrit
143 schema:givenName Eldad
144 rdf:type schema:Person
145 N292b463b9ba3481b8bd559fa1877e363 rdf:first N87ee017ee09c413fab23d6bc0af95c15
146 rdf:rest N92a3f792f39644a7b3a1a23c8766c0ef
147 N2b902016432a4e718ce7d14b1d519309 rdf:first Nee43d4b141e94dcabf70da948cf3a583
148 rdf:rest Na773e8807f5844f0906fe9c2d964da50
149 N306909dbd85b461d81b8930748cd149e rdf:first N5fcfa532602a40a886c828ce755bc58c
150 rdf:rest N17fc6d98d9694aff8e60d9ba4d6b1439
151 N3b0b6c55c35b4bb3a759377ad88a247a schema:familyName Dewalle
152 schema:givenName Marie
153 rdf:type schema:Person
154 N3cafddd48aa34121becd5d25839b8011 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Heterozygote
156 rdf:type schema:DefinedTerm
157 N4098135f44df49dc9a0529ebfb74c63b rdf:first N8bae32eb191d440ab4f6528508470a90
158 rdf:rest N059b684808f04505a4e7dc5b72761193
159 N446a2b33bb164754bb1377c274153d95 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Membrane Glycoproteins
161 rdf:type schema:DefinedTerm
162 N46f8a2fa599e4d638aad006964c1449b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
163 schema:name Butyrophilins
164 rdf:type schema:DefinedTerm
165 N4ca61b4acf4c459ca910ba49e2a07564 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Cytoskeletal Proteins
167 rdf:type schema:DefinedTerm
168 N4ecb376ff4d64b95a5ce2b6e8a20b9c1 rdf:first Nfece6f33ee2844638a5ba4bf7be057f9
169 rdf:rest N306909dbd85b461d81b8930748cd149e
170 N528d685d8ff04e47bfe1a1efb6c69698 rdf:first Nd543ae33d6984aae965bb4ff7fe15589
171 rdf:rest N2b902016432a4e718ce7d14b1d519309
172 N54c2f2914a1a473281806512c9a4df5b schema:issueNumber 1
173 rdf:type schema:PublicationIssue
174 N5501312096464fd1a30b2b223950fedd rdf:first Ncec7c3f10d6a40728ce1eb0638b83602
175 rdf:rest rdf:nil
176 N562bc3a4080d43d7a52952f6d3784d1d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Point Mutation
178 rdf:type schema:DefinedTerm
179 N5fcfa532602a40a886c828ce755bc58c schema:familyName Touitou
180 schema:givenName Isabelle
181 rdf:type schema:Person
182 N6080a74a5fe64374b8ce823387c6efaf schema:familyName Cruaud
183 schema:givenName Corinne
184 rdf:type schema:Person
185 N619425b76d7d4ba7b67a9cdc79b0def8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
186 schema:name France
187 rdf:type schema:DefinedTerm
188 N61d39a63954a430eba8489b602e3a16a rdf:first Ndd04bf953886459bb2e68adf382660f7
189 rdf:rest N4ecb376ff4d64b95a5ce2b6e8a20b9c1
190 N63ce3d9a3b3d46e183a1d31c34e95467 rdf:first N8edff5a2b6e74cfebebc4b4efc92d76e
191 rdf:rest N292b463b9ba3481b8bd559fa1877e363
192 N659606a320cf47b48c167b1188c20c53 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
193 schema:name Genes, Recessive
194 rdf:type schema:DefinedTerm
195 N66631083f8194d02ac0355c7afe75e1a schema:familyName Weissenbach
196 schema:givenName Jean
197 rdf:type schema:Person
198 N68b88f5779904d95b9d077be14a06f81 schema:familyName Petit
199 schema:givenName Jean-Louis
200 rdf:type schema:Person
201 N75f70d9cdbf24a1c834df165a2af83b3 rdf:first sg:person.0611644740.41
202 rdf:rest Nadd051715f75412f9f700e9a54a74f60
203 N812424e628054c6bad4d27276e062f5c rdf:first Nc54beee5fb82480380aadeec7bb0daea
204 rdf:rest Nb0cc53cadfad4fc180e251c389ade398
205 N81c96af336a64f6fa55a1152a5c9e362 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
206 schema:name Mice
207 rdf:type schema:DefinedTerm
208 N83c520cbc7f8426e924f5b2b79ebf967 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
209 schema:name Mediterranean Region
210 rdf:type schema:DefinedTerm
211 N86930e3a17254b3490c4c8c55cba587e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
212 schema:name DNA Primers
213 rdf:type schema:DefinedTerm
214 N87ee017ee09c413fab23d6bc0af95c15 schema:familyName Pulcini
215 schema:givenName Françoise
216 rdf:type schema:Person
217 N8841a8e0cdaf40d39a211886d3161020 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
218 schema:name Base Sequence
219 rdf:type schema:DefinedTerm
220 N8bae32eb191d440ab4f6528508470a90 schema:familyName Rozenbaum
221 schema:givenName Michael
222 rdf:type schema:Person
223 N8edff5a2b6e74cfebebc4b4efc92d76e schema:familyName Samson
224 schema:givenName Delphine
225 rdf:type schema:Person
226 N8fcba3da88b94c48923eed09f2327a9a rdf:first N19f2b13bcd0c457089b95cf9002f9d26
227 rdf:rest Nab345bdd2d0b47d1b83a2fda356002b7
228 N92a3f792f39644a7b3a1a23c8766c0ef rdf:first N66631083f8194d02ac0355c7afe75e1a
229 rdf:rest N528d685d8ff04e47bfe1a1efb6c69698
230 N9a1dfd0b4774449dbaf8b451acb2a539 schema:volumeNumber 17
231 rdf:type schema:PublicationVolume
232 N9c717283485f4f9a934364fa22323ee2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
233 schema:name Genetic Variation
234 rdf:type schema:DefinedTerm
235 Na1d90667c6384eb8a73c8033e6851bfb rdf:first sg:person.01177762444.48
236 rdf:rest Nd8a279c15be04f91b2c80b51dd71036a
237 Na3ebb29f467b495ba907dfc54fb4c75e rdf:first sg:person.0715412071.51
238 rdf:rest N13c904ab977b4b5792f0e5eff7f97ce9
239 Na773e8807f5844f0906fe9c2d964da50 rdf:first Nefb7e4f7acba4ea0a6e635fabda1801c
240 rdf:rest N4098135f44df49dc9a0529ebfb74c63b
241 Na85f7b2249014f1fba8a38d1ffdc0519 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
242 schema:name Proteins
243 rdf:type schema:DefinedTerm
244 Na87b429801b4436baa3168859fb470a6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
245 schema:name Molecular Sequence Data
246 rdf:type schema:DefinedTerm
247 Nab345bdd2d0b47d1b83a2fda356002b7 rdf:first sg:person.01352724246.51
248 rdf:rest N812424e628054c6bad4d27276e062f5c
249 Nab9d456e3a31477cbdf08d34cc862a8e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
250 schema:name Animals
251 rdf:type schema:DefinedTerm
252 Nac02613b47ab4362b330af8070d355f9 schema:familyName Delpech
253 schema:givenName Marc
254 rdf:type schema:Person
255 Nadd051715f75412f9f700e9a54a74f60 rdf:first N3b0b6c55c35b4bb3a759377ad88a247a
256 rdf:rest Nffef9efe0bbd4c3a95489e144b5d411a
257 Nae5d5351898a4aa79e65001b2e51cc74 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
258 schema:name Amino Acid Sequence
259 rdf:type schema:DefinedTerm
260 Nae704ff1a03445a689eee669d4cfbaee schema:familyName Consortium
261 schema:givenName The French FMF
262 rdf:type schema:Person
263 Nae8d72235574469fa2a43696e999a8a5 rdf:first Nae704ff1a03445a689eee669d4cfbaee
264 rdf:rest N8fcba3da88b94c48923eed09f2327a9a
265 Naea37c2d412f449c8484793886c805a3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
266 schema:name Genetic Markers
267 rdf:type schema:DefinedTerm
268 Nb0cc53cadfad4fc180e251c389ade398 rdf:first N13f4d72eb9de44beb8f24d034d8d420d
269 rdf:rest Nd586a540cdf544f59d1235ca3027d353
270 Nb1b8b61de03543f6879dd7c5182b6619 rdf:first sg:person.01272345462.76
271 rdf:rest Nd4c1806be99e4f938057c7608919f2d9
272 Nbad8e53a0171429e80519ea88db4e09a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
273 schema:name Sequence Homology, Amino Acid
274 rdf:type schema:DefinedTerm
275 Nc268aef4b2cf4fb1a24264ab1f385968 schema:name doi
276 schema:value 10.1038/ng0997-25
277 rdf:type schema:PropertyValue
278 Nc4d4f71b5ba847c8841787ba9bf10d9c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
279 schema:name Microsatellite Repeats
280 rdf:type schema:DefinedTerm
281 Nc54beee5fb82480380aadeec7bb0daea schema:familyName Dasilva
282 schema:givenName Corinne
283 rdf:type schema:Person
284 Nc9397ac52b8243efa4d868f1dedcdafa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
285 schema:name Cosmids
286 rdf:type schema:DefinedTerm
287 Ncaeeca7ce94644fb84ac5e3efe025b63 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
288 schema:name Humans
289 rdf:type schema:DefinedTerm
290 Ncbd55554c9a54cdfa6a92ec9f4598aa9 schema:name dimensions_id
291 schema:value pub.1009290050
292 rdf:type schema:PropertyValue
293 Ncec7c3f10d6a40728ce1eb0638b83602 schema:familyName Grateau
294 schema:givenName Gilles
295 rdf:type schema:Person
296 Nd2ccddc5cc9d44d292936ccca0c47164 schema:familyName Dross
297 schema:givenName Christiane
298 rdf:type schema:Person
299 Nd3bb9769a62b431182b63f58520d940c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
300 schema:name Protein Biosynthesis
301 rdf:type schema:DefinedTerm
302 Nd4c1806be99e4f938057c7608919f2d9 rdf:first Nac02613b47ab4362b330af8070d355f9
303 rdf:rest N5501312096464fd1a30b2b223950fedd
304 Nd543ae33d6984aae965bb4ff7fe15589 schema:familyName Heilig
305 schema:givenName Roland
306 rdf:type schema:Person
307 Nd586a540cdf544f59d1235ca3027d353 rdf:first N68b88f5779904d95b9d077be14a06f81
308 rdf:rest Na3ebb29f467b495ba907dfc54fb4c75e
309 Nd8a279c15be04f91b2c80b51dd71036a rdf:first N02e9b70c88fb4a7794fa25ca591c9656
310 rdf:rest Nb1b8b61de03543f6879dd7c5182b6619
311 Ndd04bf953886459bb2e68adf382660f7 schema:familyName Dupont
312 schema:givenName Madeleine
313 rdf:type schema:Person
314 Ndec917f97f064e9ab2bd06f1e54e853c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
315 schema:name Sequence Alignment
316 rdf:type schema:DefinedTerm
317 Ndef78caed7534b25934dde8d982553ec schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
318 schema:name Reproducibility of Results
319 rdf:type schema:DefinedTerm
320 Nec021e1a9f154bd4ba11386eca70242c schema:name nlm_unique_id
321 schema:value 9216904
322 rdf:type schema:PropertyValue
323 Nee43d4b141e94dcabf70da948cf3a583 schema:familyName Notanicola
324 schema:givenName Cécile
325 rdf:type schema:Person
326 Nefb7e4f7acba4ea0a6e635fabda1801c schema:familyName Domingo
327 schema:givenName Cécile
328 rdf:type schema:Person
329 Nfaebfd2c24ff4d0fbfb959d4c2dbe4ce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
330 schema:name Pyrin
331 rdf:type schema:DefinedTerm
332 Nfece6f33ee2844638a5ba4bf7be057f9 schema:familyName Demaille
333 schema:givenName Jacques
334 rdf:type schema:Person
335 Nffef9efe0bbd4c3a95489e144b5d411a rdf:first Nd2ccddc5cc9d44d292936ccca0c47164
336 rdf:rest N22639a069be04e6b9ecb6760109d0801
337 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
338 schema:name Biological Sciences
339 rdf:type schema:DefinedTerm
340 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
341 schema:name Genetics
342 rdf:type schema:DefinedTerm
343 sg:journal.1103138 schema:issn 1061-4036
344 1546-1718
345 schema:name Nature Genetics
346 rdf:type schema:Periodical
347 sg:person.01177762444.48 schema:familyName Nedelec
348 schema:givenName Brigitte
349 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177762444.48
350 rdf:type schema:Person
351 sg:person.01272345462.76 schema:familyName Chaabouni
352 schema:givenName Habiba
353 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01272345462.76
354 rdf:type schema:Person
355 sg:person.01352724246.51 schema:familyName Clepet
356 schema:givenName Christian
357 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352724246.51
358 rdf:type schema:Person
359 sg:person.0611644740.41 schema:familyName Topaloglu
360 schema:givenName Rezzan
361 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0611644740.41
362 rdf:type schema:Person
363 sg:person.0623314152.32 schema:familyName Smaoui
364 schema:givenName Nizar
365 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0623314152.32
366 rdf:type schema:Person
367 sg:person.0715412071.51 schema:familyName Caloustian
368 schema:givenName Christophe
369 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715412071.51
370 rdf:type schema:Person
371 sg:pub.10.1007/bf00210422 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043005418
372 https://doi.org/10.1007/bf00210422
373 rdf:type schema:CreativeWork
374 sg:pub.10.1038/ng0895-477 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025348794
375 https://doi.org/10.1038/ng0895-477
376 rdf:type schema:CreativeWork
377 https://app.dimensions.ai/details/publication/pub.1078760027 schema:CreativeWork
378 https://app.dimensions.ai/details/publication/pub.1082759330 schema:CreativeWork
379 https://app.dimensions.ai/details/publication/pub.1082891861 schema:CreativeWork
380 https://app.dimensions.ai/details/publication/pub.1082937035 schema:CreativeWork
381 https://app.dimensions.ai/details/publication/pub.1082945080 schema:CreativeWork
382 https://doi.org/10.1002/ajmg.1320340206 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000267232
383 rdf:type schema:CreativeWork
384 https://doi.org/10.1002/ajmg.1320550313 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021849634
385 rdf:type schema:CreativeWork
386 https://doi.org/10.1002/j.1460-2075.1993.tb05636.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1082463011
387 rdf:type schema:CreativeWork
388 https://doi.org/10.1006/geno.1994.1664 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013065522
389 rdf:type schema:CreativeWork
390 https://doi.org/10.1006/geno.1997.4629 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005021369
391 rdf:type schema:CreativeWork
392 https://doi.org/10.1016/0092-8674(91)90418-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1035716498
393 rdf:type schema:CreativeWork
394 https://doi.org/10.1016/0888-7543(90)90491-c schema:sameAs https://app.dimensions.ai/details/publication/pub.1046245784
395 rdf:type schema:CreativeWork
396 https://doi.org/10.1016/0888-7543(95)80219-c schema:sameAs https://app.dimensions.ai/details/publication/pub.1011692949
397 rdf:type schema:CreativeWork
398 https://doi.org/10.1016/0968-0004(87)90231-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000250732
399 rdf:type schema:CreativeWork
400 https://doi.org/10.1016/s0022-2836(05)80360-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013618994
401 rdf:type schema:CreativeWork
402 https://doi.org/10.1016/s0968-0004(96)30040-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021515232
403 rdf:type schema:CreativeWork
404 https://doi.org/10.1073/pnas.85.8.2733 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043687641
405 rdf:type schema:CreativeWork
406 https://doi.org/10.1093/hmg/1.8.587 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059643984
407 rdf:type schema:CreativeWork
408 https://doi.org/10.1093/nar/17.21.8543 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005945600
409 rdf:type schema:CreativeWork
410 https://doi.org/10.1093/nar/17.7.2503 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018135284
411 rdf:type schema:CreativeWork
412 https://doi.org/10.1093/nar/21.8.1965 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027848779
413 rdf:type schema:CreativeWork
414 https://doi.org/10.1093/nar/22.24.5156 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021104151
415 rdf:type schema:CreativeWork
416 https://doi.org/10.1093/nar/23.24.4992 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029853192
417 rdf:type schema:CreativeWork
418 https://doi.org/10.1093/nar/24.6.1105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007673395
419 rdf:type schema:CreativeWork
420 https://doi.org/10.1101/gr.6.9.807 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000850162
421 rdf:type schema:CreativeWork
422 https://doi.org/10.1128/mcb.7.4.1378 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062713763
423 rdf:type schema:CreativeWork
 




Preview window. Press ESC to close (or click here)


...