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A genotype-phenotype correlation for GJB2 (connexin 26) deafness

✍ Scribed by Cryns, K

Book ID: 115444608
Publisher: BMJ Publishing Group
Year: 2004
Tongue: English
Weight: 374 KB
Volume: 41
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmg.2003.013896

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Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in Caucasians. We have sequenced the GJB2 gene in 39 Japanese patients

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