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

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 a...

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Veröffentlicht in:Human genetics 2000-01, Vol.106 (1), p.40-44
Hauptverfasser: RABIONET, R, ZELANTE, L, LOPEZ-BIGAS, N, D'AGRUMA, L, MELCHIONDA, S, RESTAGNO, G, ARBONES, M. L, GASPARINI, P, ESTIVILL, X
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