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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-1-11
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pubmed:abstractText |
GJB2 (gap junction protein, beta 2, 26kDa: connexin 26) is a gap junction protein gene that has been implicated in many cases of autosomal recessive non-syndromic deafness. Point and deletion mutations in GJB2 are the most frequent cause of non-syndromic deafness across racial groups. To clarify the relation between profound non-syndromic deafness and GJB2 mutation in Japanese children, we performed genetic testing for GJB2.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1872-8464
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
75
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
211-4
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pubmed:meshHeading |
pubmed-meshheading:21112098-Asian Continental Ancestry Group,
pubmed-meshheading:21112098-Audiometry,
pubmed-meshheading:21112098-Child, Preschool,
pubmed-meshheading:21112098-Cohort Studies,
pubmed-meshheading:21112098-Connexins,
pubmed-meshheading:21112098-Deafness,
pubmed-meshheading:21112098-Female,
pubmed-meshheading:21112098-Gene Deletion,
pubmed-meshheading:21112098-Genetic Predisposition to Disease,
pubmed-meshheading:21112098-Genetic Testing,
pubmed-meshheading:21112098-Genotype,
pubmed-meshheading:21112098-Humans,
pubmed-meshheading:21112098-Infant,
pubmed-meshheading:21112098-Japan,
pubmed-meshheading:21112098-Male,
pubmed-meshheading:21112098-Point Mutation,
pubmed-meshheading:21112098-Polymerase Chain Reaction,
pubmed-meshheading:21112098-Prevalence,
pubmed-meshheading:21112098-Severity of Illness Index,
pubmed-meshheading:21112098-Sex Distribution
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pubmed:year |
2011
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pubmed:articleTitle |
Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.
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pubmed:affiliation |
Department of Otorhinolaryngology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. chieri-h@juntendo.ac.jp
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pubmed:publicationType |
Journal Article,
Comparative Study
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