Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

Abstract Objective Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide. Two deletions in GJB6 , del( GJB6 -D13S1830) and del( GJ...

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Veröffentlicht in:International journal of pediatric otorhinolaryngology 2010-03, Vol.74 (3), p.250-254
Hauptverfasser: Gravina, Luis Pablo, Foncuberta, María Eugenia, Prieto, María Eugenia, Garrido, Jeniffer, Barreiro, Cristina, Chertkoff, Lilien
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Sprache:eng
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