Connexin 26 mutations in hereditary non-syndromic sensorineural deafness View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-05

AUTHORS

D P Kelsell, J Dunlop, H P Stevens, N J Lench, J N Liang, G Parry, R F Mueller, I M Leigh

ABSTRACT

Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most deafness results from peripheral auditory defects that occur as a consequence of either conductive (outer or middle ear) or sensorineuronal (cochlea) abnormalities. Although a number of mutant genes have been identified that are responsible for syndromic (multiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is known about the genetic basis of non-syndromic (single phenotypic disease) deafness. Here we study a pedigree containing cases of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family. Cx26 mutations resulting in premature stop codons were also found in three autosomal recessive non-syndromic sensorineuronal deafness pedigrees, genetically linked to chromosome 13q11-12 (DFNB1), where the Cx26 gene is localized. Immunohistochemical staining of human cochlear cells for Cx26 demonstrated high levels of expression. To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea. More... »

PAGES

80-83

Journal

TITLE

Nature

ISSUE

6628

VOLUME

387

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/387080a0

DOI

http://dx.doi.org/10.1038/387080a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017615074

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9139825


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": "Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 13", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cochlea", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Connexin 26", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Connexins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Deafness", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Immunohistochemistry", 
        "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": "Phenotype", 
        "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": "Syndrome", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Queen Mary University of London", 
          "id": "https://www.grid.ac/institutes/grid.4868.2", 
          "name": [
            "Academic Department of Dermatology, St Bartholomew's and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK. DavidvPvKelsell@sbphrd.com.uk"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kelsell", 
        "givenName": "D P", 
        "id": "sg:person.011034652424.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011034652424.16"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Dunlop", 
        "givenName": "J", 
        "id": "sg:person.01115551303.62", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115551303.62"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Stevens", 
        "givenName": "H P", 
        "id": "sg:person.012263072512.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012263072512.67"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Lench", 
        "givenName": "N J", 
        "type": "Person"
      }, 
      {
        "familyName": "Liang", 
        "givenName": "J N", 
        "type": "Person"
      }, 
      {
        "familyName": "Parry", 
        "givenName": "G", 
        "id": "sg:person.01112250767.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112250767.25"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Mueller", 
        "givenName": "R F", 
        "id": "sg:person.010114534212.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010114534212.05"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Leigh", 
        "givenName": "I M", 
        "id": "sg:person.01247322071.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01247322071.52"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf00186783", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005946890", 
          "https://doi.org/10.1007/bf00186783"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1749-6632.1991.tb19572.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006564931"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/374060a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006812160", 
          "https://doi.org/10.1038/374060a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1043-4682(10)80003-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010224766"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2133.1992.tb07813.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012532825"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000134183", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013546652"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199505183322002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015984868"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2133.1996.133868.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018855336"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/5.1.169", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019337365"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/aja.1002000102", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019927520"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1296-385", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023647741", 
          "https://doi.org/10.1038/ng1296-385"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0959-440x(96)80073-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026634719"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/5.4.543", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027569234"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/355635a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043244178", 
          "https://doi.org/10.1038/355635a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0193-26", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046295502", 
          "https://doi.org/10.1038/ng0193-26"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)81282-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047804901"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2133.1987.tb04914.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053267028"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/3.12.2219", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059644783"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/3.6.989", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059645026"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.8266101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062653909"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075324278", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1997-05", 
    "datePublishedReg": "1997-05-01", 
    "description": "Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most deafness results from peripheral auditory defects that occur as a consequence of either conductive (outer or middle ear) or sensorineuronal (cochlea) abnormalities. Although a number of mutant genes have been identified that are responsible for syndromic (multiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is known about the genetic basis of non-syndromic (single phenotypic disease) deafness. Here we study a pedigree containing cases of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family. Cx26 mutations resulting in premature stop codons were also found in three autosomal recessive non-syndromic sensorineuronal deafness pedigrees, genetically linked to chromosome 13q11-12 (DFNB1), where the Cx26 gene is localized. Immunohistochemical staining of human cochlear cells for Cx26 demonstrated high levels of expression. To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/387080a0", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1018957", 
        "issn": [
          "0090-0028", 
          "1476-4687"
        ], 
        "name": "Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6628", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "387"
      }
    ], 
    "name": "Connexin 26 mutations in hereditary non-syndromic\n   sensorineural deafness", 
    "pagination": "80-83", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "53ecf35fb40246b4b3cb8c9bed8c610134a062cde3e04c6494f92901b2851092"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "9139825"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0410462"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/387080a0"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1017615074"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/387080a0", 
      "https://app.dimensions.ai/details/publication/pub.1017615074"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T22:19", 
    "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_8690_00000424.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/387080a0"
  }
]
 

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.10.1038/387080a0'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/387080a0'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/387080a0'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/387080a0'


 

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

244 TRIPLES      21 PREDICATES      67 URIs      38 LITERALS      26 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/387080a0 schema:about N21bccc5d76ff41f78a9d16efe81894e2
2 N3a0685681e4d433ca96f1fb7a03bf6f9
3 N4036534c430347d4bd72b50498aedb7a
4 N4d712eb1f25548a99986b3b77f1dd274
5 N5751b72276e1403b9c0bc4f56d2b54e0
6 N57ae78b4e4f14bd3803cdc026ff0e780
7 N700a1dfc1dce45deaf7506da321bd67a
8 N74d84f523f504ce09104ab9b46ea45d4
9 N79ce29113cad4d9f989384f06c53e1f1
10 N8a36c713982d4e5aad4e39fdc382b109
11 N9c61b44a0c1340e3acbbd66d7d89dd4b
12 Nb046afc5ae2c4eff8438532da13970f2
13 Nb647714f986c40b19839132ff3d00e76
14 Nbd4a7111496e45459883264c494f279e
15 Ncfff1b3c312c4effafeed8ce7c814d84
16 Ne1fb71301c5543e0871b92b68b327f55
17 Nf84c0a2131854dac9fd1f5ee40e94cc6
18 anzsrc-for:06
19 anzsrc-for:0604
20 schema:author N04ce627bfcae452db5258720b003d75c
21 schema:citation sg:pub.10.1007/bf00186783
22 sg:pub.10.1038/355635a0
23 sg:pub.10.1038/374060a0
24 sg:pub.10.1038/ng0193-26
25 sg:pub.10.1038/ng1296-385
26 https://app.dimensions.ai/details/publication/pub.1075324278
27 https://doi.org/10.1002/aja.1002000102
28 https://doi.org/10.1016/s0092-8674(00)81282-9
29 https://doi.org/10.1016/s0959-440x(96)80073-x
30 https://doi.org/10.1016/s1043-4682(10)80003-0
31 https://doi.org/10.1046/j.1365-2133.1996.133868.x
32 https://doi.org/10.1056/nejm199505183322002
33 https://doi.org/10.1093/hmg/3.12.2219
34 https://doi.org/10.1093/hmg/3.6.989
35 https://doi.org/10.1093/hmg/5.1.169
36 https://doi.org/10.1093/hmg/5.4.543
37 https://doi.org/10.1111/j.1365-2133.1987.tb04914.x
38 https://doi.org/10.1111/j.1365-2133.1992.tb07813.x
39 https://doi.org/10.1111/j.1749-6632.1991.tb19572.x
40 https://doi.org/10.1126/science.8266101
41 https://doi.org/10.1159/000134183
42 schema:datePublished 1997-05
43 schema:datePublishedReg 1997-05-01
44 schema:description Severe deafness or hearing impairment is the most prevalent inherited sensory disorder, affecting about 1 in 1,000 children. Most deafness results from peripheral auditory defects that occur as a consequence of either conductive (outer or middle ear) or sensorineuronal (cochlea) abnormalities. Although a number of mutant genes have been identified that are responsible for syndromic (multiple phenotypic disease) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is known about the genetic basis of non-syndromic (single phenotypic disease) deafness. Here we study a pedigree containing cases of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family. Cx26 mutations resulting in premature stop codons were also found in three autosomal recessive non-syndromic sensorineuronal deafness pedigrees, genetically linked to chromosome 13q11-12 (DFNB1), where the Cx26 gene is localized. Immunohistochemical staining of human cochlear cells for Cx26 demonstrated high levels of expression. To our knowledge, this is the first non-syndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.
45 schema:genre research_article
46 schema:inLanguage en
47 schema:isAccessibleForFree false
48 schema:isPartOf N43b2c8c91b5948228e2e648d1c7876b5
49 N9acf59d4ed77433a883fb43f7d355efb
50 sg:journal.1018957
51 schema:name Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
52 schema:pagination 80-83
53 schema:productId N39dfe738719c4800a6f4e1e77fce1852
54 N45b0297b77954ec6a662bdb1a6f40063
55 N5ff8624052614f359fcf5a55c8b92151
56 Ncfc8359ffc88438388b50f990fa1bd8b
57 Nffa66bc2d13047f88f33c73becae5ae3
58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017615074
59 https://doi.org/10.1038/387080a0
60 schema:sdDatePublished 2019-04-10T22:19
61 schema:sdLicense https://scigraph.springernature.com/explorer/license/
62 schema:sdPublisher N93d4ac78af8d4a359b451529b10191c4
63 schema:url http://www.nature.com/articles/387080a0
64 sgo:license sg:explorer/license/
65 sgo:sdDataset articles
66 rdf:type schema:ScholarlyArticle
67 N04ce627bfcae452db5258720b003d75c rdf:first sg:person.011034652424.16
68 rdf:rest N9bb891ae48f04c3da7e7b8dfb804715f
69 N069f6742e9c84f64ae9808dd6692281f schema:familyName Lench
70 schema:givenName N J
71 rdf:type schema:Person
72 N21bccc5d76ff41f78a9d16efe81894e2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name Male
74 rdf:type schema:DefinedTerm
75 N2a2ba23ab7a746a99f02fc351f8d1f20 schema:familyName Liang
76 schema:givenName J N
77 rdf:type schema:Person
78 N2d47f29e96d6474e86406f35dc3bb59c rdf:first N2a2ba23ab7a746a99f02fc351f8d1f20
79 rdf:rest Nd3ae6d16d1eb44fc8bf7c32858a48736
80 N39dfe738719c4800a6f4e1e77fce1852 schema:name doi
81 schema:value 10.1038/387080a0
82 rdf:type schema:PropertyValue
83 N3a0685681e4d433ca96f1fb7a03bf6f9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Connexin 26
85 rdf:type schema:DefinedTerm
86 N4036534c430347d4bd72b50498aedb7a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Pedigree
88 rdf:type schema:DefinedTerm
89 N43b2c8c91b5948228e2e648d1c7876b5 schema:volumeNumber 387
90 rdf:type schema:PublicationVolume
91 N45b0297b77954ec6a662bdb1a6f40063 schema:name dimensions_id
92 schema:value pub.1017615074
93 rdf:type schema:PropertyValue
94 N4d712eb1f25548a99986b3b77f1dd274 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
95 schema:name Connexins
96 rdf:type schema:DefinedTerm
97 N5751b72276e1403b9c0bc4f56d2b54e0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name Female
99 rdf:type schema:DefinedTerm
100 N57ae78b4e4f14bd3803cdc026ff0e780 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Chromosomes, Human, Pair 13
102 rdf:type schema:DefinedTerm
103 N5ff8624052614f359fcf5a55c8b92151 schema:name readcube_id
104 schema:value 53ecf35fb40246b4b3cb8c9bed8c610134a062cde3e04c6494f92901b2851092
105 rdf:type schema:PropertyValue
106 N700a1dfc1dce45deaf7506da321bd67a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Cochlea
108 rdf:type schema:DefinedTerm
109 N73eca40806684d1e8e04e435b6769f7c rdf:first sg:person.01247322071.52
110 rdf:rest rdf:nil
111 N74cb1b2554f548e0a730a49f12a81be3 rdf:first sg:person.012263072512.67
112 rdf:rest Nba22c66284194ba080197a6a2e861505
113 N74d84f523f504ce09104ab9b46ea45d4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name DNA Mutational Analysis
115 rdf:type schema:DefinedTerm
116 N79ce29113cad4d9f989384f06c53e1f1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Humans
118 rdf:type schema:DefinedTerm
119 N8a36c713982d4e5aad4e39fdc382b109 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Aged
121 rdf:type schema:DefinedTerm
122 N8b25712d3a6c424cb0c77992a5bd300e rdf:first sg:person.010114534212.05
123 rdf:rest N73eca40806684d1e8e04e435b6769f7c
124 N93d4ac78af8d4a359b451529b10191c4 schema:name Springer Nature - SN SciGraph project
125 rdf:type schema:Organization
126 N9acf59d4ed77433a883fb43f7d355efb schema:issueNumber 6628
127 rdf:type schema:PublicationIssue
128 N9bb891ae48f04c3da7e7b8dfb804715f rdf:first sg:person.01115551303.62
129 rdf:rest N74cb1b2554f548e0a730a49f12a81be3
130 N9c61b44a0c1340e3acbbd66d7d89dd4b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Immunohistochemistry
132 rdf:type schema:DefinedTerm
133 Nb046afc5ae2c4eff8438532da13970f2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Haplotypes
135 rdf:type schema:DefinedTerm
136 Nb647714f986c40b19839132ff3d00e76 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Deafness
138 rdf:type schema:DefinedTerm
139 Nba22c66284194ba080197a6a2e861505 rdf:first N069f6742e9c84f64ae9808dd6692281f
140 rdf:rest N2d47f29e96d6474e86406f35dc3bb59c
141 Nbd4a7111496e45459883264c494f279e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Syndrome
143 rdf:type schema:DefinedTerm
144 Ncfc8359ffc88438388b50f990fa1bd8b schema:name pubmed_id
145 schema:value 9139825
146 rdf:type schema:PropertyValue
147 Ncfff1b3c312c4effafeed8ce7c814d84 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
148 schema:name Point Mutation
149 rdf:type schema:DefinedTerm
150 Nd3ae6d16d1eb44fc8bf7c32858a48736 rdf:first sg:person.01112250767.25
151 rdf:rest N8b25712d3a6c424cb0c77992a5bd300e
152 Ne1fb71301c5543e0871b92b68b327f55 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
153 schema:name Phenotype
154 rdf:type schema:DefinedTerm
155 Nf84c0a2131854dac9fd1f5ee40e94cc6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name Polymerase Chain Reaction
157 rdf:type schema:DefinedTerm
158 Nffa66bc2d13047f88f33c73becae5ae3 schema:name nlm_unique_id
159 schema:value 0410462
160 rdf:type schema:PropertyValue
161 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
162 schema:name Biological Sciences
163 rdf:type schema:DefinedTerm
164 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
165 schema:name Genetics
166 rdf:type schema:DefinedTerm
167 sg:journal.1018957 schema:issn 0090-0028
168 1476-4687
169 schema:name Nature
170 rdf:type schema:Periodical
171 sg:person.010114534212.05 schema:familyName Mueller
172 schema:givenName R F
173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010114534212.05
174 rdf:type schema:Person
175 sg:person.011034652424.16 schema:affiliation https://www.grid.ac/institutes/grid.4868.2
176 schema:familyName Kelsell
177 schema:givenName D P
178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011034652424.16
179 rdf:type schema:Person
180 sg:person.01112250767.25 schema:familyName Parry
181 schema:givenName G
182 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112250767.25
183 rdf:type schema:Person
184 sg:person.01115551303.62 schema:familyName Dunlop
185 schema:givenName J
186 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115551303.62
187 rdf:type schema:Person
188 sg:person.012263072512.67 schema:familyName Stevens
189 schema:givenName H P
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012263072512.67
191 rdf:type schema:Person
192 sg:person.01247322071.52 schema:familyName Leigh
193 schema:givenName I M
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01247322071.52
195 rdf:type schema:Person
196 sg:pub.10.1007/bf00186783 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005946890
197 https://doi.org/10.1007/bf00186783
198 rdf:type schema:CreativeWork
199 sg:pub.10.1038/355635a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043244178
200 https://doi.org/10.1038/355635a0
201 rdf:type schema:CreativeWork
202 sg:pub.10.1038/374060a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006812160
203 https://doi.org/10.1038/374060a0
204 rdf:type schema:CreativeWork
205 sg:pub.10.1038/ng0193-26 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046295502
206 https://doi.org/10.1038/ng0193-26
207 rdf:type schema:CreativeWork
208 sg:pub.10.1038/ng1296-385 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023647741
209 https://doi.org/10.1038/ng1296-385
210 rdf:type schema:CreativeWork
211 https://app.dimensions.ai/details/publication/pub.1075324278 schema:CreativeWork
212 https://doi.org/10.1002/aja.1002000102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019927520
213 rdf:type schema:CreativeWork
214 https://doi.org/10.1016/s0092-8674(00)81282-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047804901
215 rdf:type schema:CreativeWork
216 https://doi.org/10.1016/s0959-440x(96)80073-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1026634719
217 rdf:type schema:CreativeWork
218 https://doi.org/10.1016/s1043-4682(10)80003-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010224766
219 rdf:type schema:CreativeWork
220 https://doi.org/10.1046/j.1365-2133.1996.133868.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1018855336
221 rdf:type schema:CreativeWork
222 https://doi.org/10.1056/nejm199505183322002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015984868
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1093/hmg/3.12.2219 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059644783
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1093/hmg/3.6.989 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059645026
227 rdf:type schema:CreativeWork
228 https://doi.org/10.1093/hmg/5.1.169 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019337365
229 rdf:type schema:CreativeWork
230 https://doi.org/10.1093/hmg/5.4.543 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027569234
231 rdf:type schema:CreativeWork
232 https://doi.org/10.1111/j.1365-2133.1987.tb04914.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1053267028
233 rdf:type schema:CreativeWork
234 https://doi.org/10.1111/j.1365-2133.1992.tb07813.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1012532825
235 rdf:type schema:CreativeWork
236 https://doi.org/10.1111/j.1749-6632.1991.tb19572.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1006564931
237 rdf:type schema:CreativeWork
238 https://doi.org/10.1126/science.8266101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062653909
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1159/000134183 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013546652
241 rdf:type schema:CreativeWork
242 https://www.grid.ac/institutes/grid.4868.2 schema:alternateName Queen Mary University of London
243 schema:name Academic Department of Dermatology, St Bartholomew's and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK. DavidvPvKelsell@sbphrd.com.uk
244 rdf:type schema:Organization
 




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


...