Article
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.
Molecular biology reports - 1 Feb 2011
Cordeiro-Silva Melissa de Freitas, Barbosa Andressa, Santiago Marília, Provetti Mariana, Dettogni Raquel Spinassé, Tovar Thais Tristão, Rabbi-Bortolini Eliete, Louro Iúri Drumond
Abstract excerpt
In developed countries deafness has a genetic cause in over 60% of the cases. Contrastingly, in Brazil, it is estimated that only 16% of all deafnesses are caused by genetic factors. Among hereditary hearing deficiencies, approximately half is caused by mutations in the Gap Junction Protein Beta-2 (GJB2) gene, which encodes the protein Connexin 26 (Cx26). There are four mutations in this gene that present high...
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