A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 ge...

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Bibliographic Details
Main Authors: Raquel Rabionet, Estela Morales-Peralta, Núria López-Bigas, Maria Lourdes Arbonés, Xavier Estivill
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2006-01-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300006