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Mutations in the Connexin 26 Gene ( GJB2 ) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

✍ Scribed by Morell, Robert J.; Kim, Hung Jeff; Hood, Linda J.; Goforth, Leah; Friderici, Karen; Fisher, Rachel; Van Camp, Guy; Berlin, Charles I.; Oddoux, Carole; Ostrer, Harry; Keats, Bronya; Friedman, Thomas B.; Agustin, Theresa San; Dumon, Jan


Book ID
118128486
Publisher
Massachusetts Medical Society
Year
1998
Tongue
English
Weight
106 KB
Volume
339
Category
Article
ISSN
0096-6762

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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