Studies of a DNA marker (G8) genetically linked to Huntington disease in British families View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1986-08

AUTHORS

Sandra Youngman, M. Sarfarazi, O. W. J. Quarrell, P. M. Conneally, Karen Gibbons, P. S. Harper, D. J. Shaw, R. E. Tanzi, Margaret R. Wallace, J. F. Gusella

ABSTRACT

Close genetic linkage has been shown between the DNA sequence G8 (locus D4S10) and 16 British families with Huntington disease using the HindIII, EcoR1, Nci1, and Pst1 polymorphisms detected by G8, and by combining all the polymorphisms to give a combined haplotype. Two recombinants have been detected in these families giving a maximum lod score of 17.60 at a Θ of 0.02. These results confirm the originally reported linkage between the loci and provide evidence against significant multilocus heterogeneity for Huntington disease. More... »

PAGES

333-339

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00279096

DOI

http://dx.doi.org/10.1007/bf00279096

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011712287

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/3017842


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/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Restriction Enzymes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Frequency", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Linkage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Markers", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Huntington Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lod Score", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Wales", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK", 
          "id": "http://www.grid.ac/institutes/grid.5600.3", 
          "name": [
            "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Youngman", 
        "givenName": "Sandra", 
        "id": "sg:person.01032677246.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01032677246.76"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK", 
          "id": "http://www.grid.ac/institutes/grid.5600.3", 
          "name": [
            "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sarfarazi", 
        "givenName": "M.", 
        "id": "sg:person.01134541430.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134541430.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK", 
          "id": "http://www.grid.ac/institutes/grid.5600.3", 
          "name": [
            "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Quarrell", 
        "givenName": "O. W. J.", 
        "id": "sg:person.015755115134.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015755115134.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Medical Genetics, Indiana University Medical Center, Indianapolis, USA", 
          "id": "http://www.grid.ac/institutes/grid.411570.6", 
          "name": [
            "Department of Medical Genetics, Indiana University Medical Center, Indianapolis, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Conneally", 
        "givenName": "P. M.", 
        "id": "sg:person.0634332240.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634332240.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital, 02114, Boston, MA, USA", 
          "id": "http://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Massachusetts General Hospital, 02114, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gibbons", 
        "givenName": "Karen", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK", 
          "id": "http://www.grid.ac/institutes/grid.5600.3", 
          "name": [
            "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Harper", 
        "givenName": "P. S.", 
        "id": "sg:person.0631375573.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631375573.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK", 
          "id": "http://www.grid.ac/institutes/grid.5600.3", 
          "name": [
            "Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shaw", 
        "givenName": "D. J.", 
        "id": "sg:person.01166474132.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166474132.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital, 02114, Boston, MA, USA", 
          "id": "http://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Massachusetts General Hospital, 02114, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tanzi", 
        "givenName": "R. E.", 
        "id": "sg:person.01211075403.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211075403.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Medical Genetics, Indiana University Medical Center, Indianapolis, USA", 
          "id": "http://www.grid.ac/institutes/grid.411570.6", 
          "name": [
            "Department of Medical Genetics, Indiana University Medical Center, Indianapolis, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wallace", 
        "givenName": "Margaret R.", 
        "id": "sg:person.01157214000.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157214000.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts General Hospital, 02114, Boston, MA, USA", 
          "id": "http://www.grid.ac/institutes/grid.32224.35", 
          "name": [
            "Massachusetts General Hospital, 02114, Boston, MA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gusella", 
        "givenName": "J. F.", 
        "id": "sg:person.012250725157.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012250725157.32"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/306234a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008727690", 
          "https://doi.org/10.1038/306234a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/318075a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024755565", 
          "https://doi.org/10.1038/318075a0"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1986-08", 
    "datePublishedReg": "1986-08-01", 
    "description": "Close genetic linkage has been shown between the DNA sequence G8 (locus D4S10) and 16 British families with Huntington disease using the HindIII, EcoR1, Nci1, and Pst1 polymorphisms detected by G8, and by combining all the polymorphisms to give a combined haplotype. Two recombinants have been detected in these families giving a maximum lod score of 17.60 at a \u0398 of 0.02. These results confirm the originally reported linkage between the loci and provide evidence against significant multilocus heterogeneity for Huntington disease.", 
    "genre": "article", 
    "id": "sg:pub.10.1007/bf00279096", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "73"
      }
    ], 
    "keywords": [
      "Huntington's disease", 
      "disease", 
      "British families", 
      "polymorphism", 
      "genetic linkage", 
      "maximum lod score", 
      "close genetic linkage", 
      "scores", 
      "markers", 
      "LOD score", 
      "G8", 
      "family", 
      "evidence", 
      "haplotypes", 
      "study", 
      "heterogeneity", 
      "recombinants", 
      "EcoR1", 
      "HindIII", 
      "linkage", 
      "results", 
      "loci", 
      "DNA markers", 
      "DNA sequence G8", 
      "sequence G8", 
      "Nci1", 
      "Pst1 polymorphisms", 
      "significant multilocus heterogeneity", 
      "multilocus heterogeneity"
    ], 
    "name": "Studies of a DNA marker (G8) genetically linked to Huntington disease in British families", 
    "pagination": "333-339", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1011712287"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/bf00279096"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "3017842"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/bf00279096", 
      "https://app.dimensions.ai/details/publication/pub.1011712287"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-01-01T18:05", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_213.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1007/bf00279096"
  }
]
 

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.10.1007/bf00279096'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/bf00279096'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf00279096'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00279096'


 

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

223 TRIPLES      22 PREDICATES      72 URIs      62 LITERALS      21 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/bf00279096 schema:about N1aab3b24a94a483abfb1b459d1c0e258
2 N430c4b28f61a4d23bcd2e434592d2fce
3 N489a0ef888194008bc6a723f0178b4c5
4 N5336afd807ca484eb969e4ebe37beca0
5 N596851c3074a4217b422f92a8e2fd546
6 N63e87fa7bedc4e2ebaab730ca20db469
7 N75b4dff93b8248499f1eafa553fd4b69
8 N8f3b4d9ff7554c0fb254ab5544fbbfda
9 Na49225f2a51c43348b77a8b8af21ecb3
10 Nb811f78ea48c4e6daabd4c587ac3551f
11 Nb94f6e7bb3674199abb82be769638e33
12 Nc6211994c2ed42da8510ab3d2297de20
13 Nd468fd354c5249e2b1e9801b8ba19397
14 Nf87bd08a39e9457caa8c8cc0b86bea94
15 anzsrc-for:06
16 anzsrc-for:0604
17 schema:author N579ab0d6833646f4892a42614ba8dd12
18 schema:citation sg:pub.10.1038/306234a0
19 sg:pub.10.1038/318075a0
20 schema:datePublished 1986-08
21 schema:datePublishedReg 1986-08-01
22 schema:description Close genetic linkage has been shown between the DNA sequence G8 (locus D4S10) and 16 British families with Huntington disease using the HindIII, EcoR1, Nci1, and Pst1 polymorphisms detected by G8, and by combining all the polymorphisms to give a combined haplotype. Two recombinants have been detected in these families giving a maximum lod score of 17.60 at a Θ of 0.02. These results confirm the originally reported linkage between the loci and provide evidence against significant multilocus heterogeneity for Huntington disease.
23 schema:genre article
24 schema:inLanguage en
25 schema:isAccessibleForFree false
26 schema:isPartOf N41e3b9ad5d494c62bdc32f930cd47395
27 Nda2e7cbfa8a54886b1d09fa440dddec1
28 sg:journal.1085982
29 schema:keywords British families
30 DNA markers
31 DNA sequence G8
32 EcoR1
33 G8
34 HindIII
35 Huntington's disease
36 LOD score
37 Nci1
38 Pst1 polymorphisms
39 close genetic linkage
40 disease
41 evidence
42 family
43 genetic linkage
44 haplotypes
45 heterogeneity
46 linkage
47 loci
48 markers
49 maximum lod score
50 multilocus heterogeneity
51 polymorphism
52 recombinants
53 results
54 scores
55 sequence G8
56 significant multilocus heterogeneity
57 study
58 schema:name Studies of a DNA marker (G8) genetically linked to Huntington disease in British families
59 schema:pagination 333-339
60 schema:productId N46af1b2a28794113b919c5c3ad9b31ef
61 Na2871be504d64dfa9db595825c81e2cb
62 Nfcb8b91617324e4da7ffa7efa763f090
63 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011712287
64 https://doi.org/10.1007/bf00279096
65 schema:sdDatePublished 2022-01-01T18:05
66 schema:sdLicense https://scigraph.springernature.com/explorer/license/
67 schema:sdPublisher Nb1f4327416b54fe58e6c8b461703b398
68 schema:url https://doi.org/10.1007/bf00279096
69 sgo:license sg:explorer/license/
70 sgo:sdDataset articles
71 rdf:type schema:ScholarlyArticle
72 N025e234fd8d04e94991c3c57f4fa9478 rdf:first sg:person.012250725157.32
73 rdf:rest rdf:nil
74 N1aab3b24a94a483abfb1b459d1c0e258 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name Gene Frequency
76 rdf:type schema:DefinedTerm
77 N26a3a4a1b5034755a1ac792b80962f2c rdf:first sg:person.01134541430.33
78 rdf:rest N5232ecd2667d4dddbcd5035f7f8b083d
79 N41e3b9ad5d494c62bdc32f930cd47395 schema:volumeNumber 73
80 rdf:type schema:PublicationVolume
81 N430c4b28f61a4d23bcd2e434592d2fce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Genetic Linkage
83 rdf:type schema:DefinedTerm
84 N46af1b2a28794113b919c5c3ad9b31ef schema:name pubmed_id
85 schema:value 3017842
86 rdf:type schema:PropertyValue
87 N489a0ef888194008bc6a723f0178b4c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Wales
89 rdf:type schema:DefinedTerm
90 N5232ecd2667d4dddbcd5035f7f8b083d rdf:first sg:person.015755115134.32
91 rdf:rest N9a27c6c231314decb28395400bacd235
92 N5336afd807ca484eb969e4ebe37beca0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Male
94 rdf:type schema:DefinedTerm
95 N579ab0d6833646f4892a42614ba8dd12 rdf:first sg:person.01032677246.76
96 rdf:rest N26a3a4a1b5034755a1ac792b80962f2c
97 N596851c3074a4217b422f92a8e2fd546 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name Polymorphism, Genetic
99 rdf:type schema:DefinedTerm
100 N63e87fa7bedc4e2ebaab730ca20db469 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Humans
102 rdf:type schema:DefinedTerm
103 N6abe83258e9e44f8b59aaab34b02c741 rdf:first sg:person.01166474132.10
104 rdf:rest Na6bc7ae044dd453b981b24a779c1a5a2
105 N75b4dff93b8248499f1eafa553fd4b69 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Alleles
107 rdf:type schema:DefinedTerm
108 N7dd22243c18b4d4b9fed03148814f26b rdf:first sg:person.0631375573.98
109 rdf:rest N6abe83258e9e44f8b59aaab34b02c741
110 N8f3b4d9ff7554c0fb254ab5544fbbfda schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Lod Score
112 rdf:type schema:DefinedTerm
113 N9895380477624c52bc8f3be392f71baa rdf:first sg:person.01157214000.77
114 rdf:rest N025e234fd8d04e94991c3c57f4fa9478
115 N9a27c6c231314decb28395400bacd235 rdf:first sg:person.0634332240.24
116 rdf:rest Neafbe1f0729847bf9770b922f618bf2e
117 Na2871be504d64dfa9db595825c81e2cb schema:name doi
118 schema:value 10.1007/bf00279096
119 rdf:type schema:PropertyValue
120 Na49225f2a51c43348b77a8b8af21ecb3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name DNA Restriction Enzymes
122 rdf:type schema:DefinedTerm
123 Na6bc7ae044dd453b981b24a779c1a5a2 rdf:first sg:person.01211075403.64
124 rdf:rest N9895380477624c52bc8f3be392f71baa
125 Nb1f4327416b54fe58e6c8b461703b398 schema:name Springer Nature - SN SciGraph project
126 rdf:type schema:Organization
127 Nb811f78ea48c4e6daabd4c587ac3551f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Female
129 rdf:type schema:DefinedTerm
130 Nb94f6e7bb3674199abb82be769638e33 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Huntington Disease
132 rdf:type schema:DefinedTerm
133 Nbdb6a683e3b841c9b31a8e7e97d98a5a schema:affiliation grid-institutes:grid.32224.35
134 schema:familyName Gibbons
135 schema:givenName Karen
136 rdf:type schema:Person
137 Nc6211994c2ed42da8510ab3d2297de20 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Pedigree
139 rdf:type schema:DefinedTerm
140 Nd468fd354c5249e2b1e9801b8ba19397 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name DNA
142 rdf:type schema:DefinedTerm
143 Nda2e7cbfa8a54886b1d09fa440dddec1 schema:issueNumber 4
144 rdf:type schema:PublicationIssue
145 Neafbe1f0729847bf9770b922f618bf2e rdf:first Nbdb6a683e3b841c9b31a8e7e97d98a5a
146 rdf:rest N7dd22243c18b4d4b9fed03148814f26b
147 Nf87bd08a39e9457caa8c8cc0b86bea94 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
148 schema:name Genetic Markers
149 rdf:type schema:DefinedTerm
150 Nfcb8b91617324e4da7ffa7efa763f090 schema:name dimensions_id
151 schema:value pub.1011712287
152 rdf:type schema:PropertyValue
153 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
154 schema:name Biological Sciences
155 rdf:type schema:DefinedTerm
156 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
157 schema:name Genetics
158 rdf:type schema:DefinedTerm
159 sg:journal.1085982 schema:issn 0340-6717
160 1432-1203
161 schema:name Human Genetics
162 schema:publisher Springer Nature
163 rdf:type schema:Periodical
164 sg:person.01032677246.76 schema:affiliation grid-institutes:grid.5600.3
165 schema:familyName Youngman
166 schema:givenName Sandra
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01032677246.76
168 rdf:type schema:Person
169 sg:person.01134541430.33 schema:affiliation grid-institutes:grid.5600.3
170 schema:familyName Sarfarazi
171 schema:givenName M.
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01134541430.33
173 rdf:type schema:Person
174 sg:person.01157214000.77 schema:affiliation grid-institutes:grid.411570.6
175 schema:familyName Wallace
176 schema:givenName Margaret R.
177 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157214000.77
178 rdf:type schema:Person
179 sg:person.01166474132.10 schema:affiliation grid-institutes:grid.5600.3
180 schema:familyName Shaw
181 schema:givenName D. J.
182 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166474132.10
183 rdf:type schema:Person
184 sg:person.01211075403.64 schema:affiliation grid-institutes:grid.32224.35
185 schema:familyName Tanzi
186 schema:givenName R. E.
187 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01211075403.64
188 rdf:type schema:Person
189 sg:person.012250725157.32 schema:affiliation grid-institutes:grid.32224.35
190 schema:familyName Gusella
191 schema:givenName J. F.
192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012250725157.32
193 rdf:type schema:Person
194 sg:person.015755115134.32 schema:affiliation grid-institutes:grid.5600.3
195 schema:familyName Quarrell
196 schema:givenName O. W. J.
197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015755115134.32
198 rdf:type schema:Person
199 sg:person.0631375573.98 schema:affiliation grid-institutes:grid.5600.3
200 schema:familyName Harper
201 schema:givenName P. S.
202 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631375573.98
203 rdf:type schema:Person
204 sg:person.0634332240.24 schema:affiliation grid-institutes:grid.411570.6
205 schema:familyName Conneally
206 schema:givenName P. M.
207 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634332240.24
208 rdf:type schema:Person
209 sg:pub.10.1038/306234a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008727690
210 https://doi.org/10.1038/306234a0
211 rdf:type schema:CreativeWork
212 sg:pub.10.1038/318075a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024755565
213 https://doi.org/10.1038/318075a0
214 rdf:type schema:CreativeWork
215 grid-institutes:grid.32224.35 schema:alternateName Massachusetts General Hospital, 02114, Boston, MA, USA
216 schema:name Massachusetts General Hospital, 02114, Boston, MA, USA
217 rdf:type schema:Organization
218 grid-institutes:grid.411570.6 schema:alternateName Department of Medical Genetics, Indiana University Medical Center, Indianapolis, USA
219 schema:name Department of Medical Genetics, Indiana University Medical Center, Indianapolis, USA
220 rdf:type schema:Organization
221 grid-institutes:grid.5600.3 schema:alternateName Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
222 schema:name Section of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK
223 rdf:type schema:Organization
 




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


...