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Carrier Frequencies of Mutations/Polymorphisms in the Connexin 26 Gene ( GJB2 ) in the Moroccan Population

โœ Scribed by Abidi, Omar; Boulouiz, Redouane; Nahili, Halima; Bakhouch, Khadija; Wakrim, Lahcen; Rouba, Hassan; Chafik, Abdelaziz; Hassar, Mohammed; Barakat, Abdelhamid


Book ID
120927685
Publisher
Mary Ann Liebert
Year
2008
Tongue
English
Weight
673 KB
Volume
12
Category
Article
ISSN
1090-6576

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Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in

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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