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Analysis of and expression of connexin 26 mutations

✍ Scribed by Jason G. Cundiff; Hamid R. Djalilian; Nalin Kumar; Venessa Rothholtz; R.Antonio Herrera

Book ID
116809578
Publisher
SAGE Publications
Year
2004
Tongue
English
Weight
35 KB
Volume
131
Category
Article
ISSN
0194-5998

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Mutation analysis of the GJB2 (Connexin
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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