Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Prevalências das mutações 35delG/GJB2 e del (GJB6-D13S1830) em portadores de surdez não-sindrômica na população do Espírito Santo - Brasil Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Mutações no gene GJB2 constituem a principal causa de surdez genética de herança autossômica recessiva, sendo a mutação 35delG a mais comum em muitos grupos étnicos. Além da mutação 35delG em homozigose, a mutação também é encontrada em heterozigose composta, associada com outras mutações nos genes...

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Bibliographic Details
Main Authors:	Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti, Eliete Rabbi-Bortolini
Format:	Article
Language:	English
Published:	Elsevier 2010-08-01
Series:	Brazilian Journal of Otorhinolaryngology
Subjects:	análise mutacional de dna frequência do gene surdez dna mutational analysis gene frequency deafness
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942010000400004

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