Article
Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile.
Biological research - 1 Jan 2013
Cifuentes Lucía, Arancibia Margarita, Torrente Mariela, Acuña Mónica, Farfán Corina, Ríos Carolina
Abstract excerpt
Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was estimated in two...
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