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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

✍ Scribed by R. Rabionet; L. Zelante; N. López-Bigas; L. D'Agruma; S. Melchionda; G. Restagno; M.L. Arbonés; P. Gasparini; X. Estivill


Publisher
Springer
Year
2000
Tongue
English
Weight
36 KB
Volume
106
Category
Article
ISSN
0340-6717

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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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