Article
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
Biochemical and biophysical research communications - 23 Aug 2002
D'Andrea Paola, Veronesi Valentina, Bicego Massimiliano, Melchionda Salvatore, Zelante Leopoldo, Di Iorio Enzo, Bruzzone Roberto, Gasparini Paolo
Abstract excerpt
Mutations in the GJB2 gene, encoding the gap-junction channel protein connexin 26, account for the majority of recessive forms and some of the dominant cases of deafness. Here, we report the frequency of GJB2 alleles in the Italian population affected by hearing loss and the functional analysis of six missense mutations. Genetic studies indicate that, apart from the common 35delG, only few additional mutations...
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