Data/hora: 09/06/2024 13:51:26

Provedor de dados: 	74	
País: 	Brazil	
Título: 	A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family	
Autores: 	Rabionet,Raquel; Morales-Peralta,Estela; López-Bigas,Núria; Arbonés,Maria Lourdes; Estivill,Xavier.	
Data: 	2006-01-01	
Ano: 	2006	
Palavras-chave: 	Connexin 26; GJB2; DFNA3; Hearing impairment.	
Resumo: 	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 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300006	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572006000300006	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.29 n.3 2006	
Fonte: 	info:eu-repo/semantics/openAccess