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Carrier frequency ofGJB2(connexin-26) mutations causing inherited deafness in the Korean population

โœ Scribed by Sung-Hee Han; Hong-Joon Park; Eun-Joo Kang; Jae-Song Ryu; Anna Lee; Young-Ho Yang; Kyoung-Ryul Lee

Book ID
113054175
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
200 KB
Volume
53
Category
Article
ISSN
1435-232X

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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