Article
Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss.
Biochemical and biophysical research communications - 25 Nov 2005
Melchionda Salvatore, Bicego Massimiliano, Marciano Elio, Franzè Annamaria, Morgutti Marcello, Bortone Grazia, Zelante Leopoldo, Carella Massimo, D'Andrea Paola
Abstract excerpt
Mutations of the GJB2 gene, encoding connexin 26, are the most common cause of hereditary congenital hearing loss in many countries and account for up to 50% of cases of autosomal-recessive non-syndromic deafness. By contrast, only a few GJB2 mutations have been reported to cause an autosomal-dominant form of non-syndromic deafness. Here, we report a family from Southern Italy affected by non-syndromic autosomal...
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