Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid

OBJECTIVE: to determinate the role of heterozygosis of M34T mutation of GJB2 gene in non syndromic congenital deafness. METHODS: retrospective study between March 2010 and June 2013. Molecular screening for 35delG and M34T mutations of the GJB2 gene was offered to all women undergoing to second trim...

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Detalhes bibliográficos
Main Authors: Coco, Manuela, Salvinelli, Fabrizio, Greco, Fabio, Trivelli, Maurizio, D’Emidio, Laura, Mesoraca, Alvaro, Giorlandino, Claudio, Raffio, Raffaella, Coco, Claudio
Formato: Artigo
Idioma:Inglês
Publicado em: CIC Edizioni Internazionali 2013
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3931280/
https://ncbi.nlm.nih.gov/pubmed/24611097
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