Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

Background: Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in the GJB2 gene worldwide highlights the participatio...

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Bibliographic Details
Main Authors: M. Martínez-Saucedo, M.R. Rivera-Vega, L.M. Gonzalez-Huerta, H. Urueta-Cuéllar, S.A. Cuevas-Covarrubias
Format: Article
Language:English
Published: Permanyer 2017-04-01
Series:Revista Médica del Hospital General de México
Subjects:
GJB2 gene
Hypoacusia
Gene mutations
Connexins
Homozygous
Online Access:http://www.sciencedirect.com/science/article/pii/S0185106316300798

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http://www.sciencedirect.com/science/article/pii/S0185106316300798

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