Article
Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Jun 2013
Ramsebner Reinhard, Ludwig Martin, Lucas Trevor, de Jong Daniëlle, Hamader Gertrude, del Castillo Ignacio, Parzefall Thomas, Baumgartner Wolf-Dieter, Schoefer Christian, Szuhai Karoly, Frei Klemens
Abstract excerpt
HYPOTHESIS: Additional genetic changes in the regulatory region of the human GJB2 gene encoding the gap junction protein (Connexin 26) may contribute to sensorineural hearing loss. BACKGROUND: Mutations in GJB2 cause up to 50% of autosomal recessive nonsyndromic hearing impairment (NSHI). METHODS: In the present study, we screened the putative 5' GJB2 regulatory region for novel alterations. RESULTS: In...
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