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Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile Biol. Res.
Cifuentes,Lucía; Arancibia,Margarita; Torrente,Mariela; Acuña,Mónica; Farfán,Corina; Ríos,Carolina.
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 samples of deaf patients from Santiago, Chile. Unrelated non-syndromic sensorioneural deaf patients were examined: Group 1 consisted of 47 unrelated individuals with neurosensory deafness referred to the Chilean Cochlear Implant Program; Group 2 included 66 school children with prelingual deafness attending special education institutions for deaf...
Tipo: Journal article Palavras-chave: Genetic deafness; Hereditary hearing loss; 35delG mutation frequency; GJB2 mutations; Chilean population.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602013000300003
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