Article
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
Human genetics - 1 Jan 2000
Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés M L, Gasparini P, Estivill X
Abstract excerpt
Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576 families/unrelated patients with recessive or sporadic deafness from Italy and Spain, 193 of them being referred as autosomal recessive, and the other 383 as apparently sporadic cases (singletons). Of the 1,152 unrelated GJB2...
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