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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
21
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pubmed:dateCreated |
1998-11-19
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pubmed:abstractText |
Mutations in the GJB2 gene cause one form of nonsyndromic recessive deafness. Among Mediterranean Europeans, more than 80 percent of cases of nonsyndromic recessive deafness result from inheritance of the 30delG mutant allele of GJB2. We assessed the contribution of mutations in GJB2 to the prevalence of the condition among Ashkenazi Jews.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0028-4793
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pubmed:author |
pubmed-author:BerlinC ICI,
pubmed-author:EBYT MTM,
pubmed-author:FisherRR,
pubmed-author:FridericiKK,
pubmed-author:FriedmanT BTB,
pubmed-author:GoforthLL,
pubmed-author:HuntR GRG,
pubmed-author:KeatsBB,
pubmed-author:MorellR JRJ,
pubmed-author:OddouxCC,
pubmed-author:OstrerHH,
pubmed-author:Van CampGG
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pubmed:issnType |
Print
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pubmed:day |
19
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pubmed:volume |
339
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1500-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9819448-Connexins,
pubmed-meshheading:9819448-Deafness,
pubmed-meshheading:9819448-Female,
pubmed-meshheading:9819448-Frameshift Mutation,
pubmed-meshheading:9819448-Gene Frequency,
pubmed-meshheading:9819448-Genes, Recessive,
pubmed-meshheading:9819448-Genetic Linkage,
pubmed-meshheading:9819448-Hearing Tests,
pubmed-meshheading:9819448-Heterozygote,
pubmed-meshheading:9819448-Humans,
pubmed-meshheading:9819448-Jews,
pubmed-meshheading:9819448-Male,
pubmed-meshheading:9819448-Otoacoustic Emissions, Spontaneous,
pubmed-meshheading:9819448-Reference Values
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pubmed:year |
1998
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pubmed:articleTitle |
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
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pubmed:affiliation |
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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