Article
Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings.
ORL; journal for oto-rhino-laryngology and its related specialties - 1 Jan 2000
Iliades T, Eleftheriades N, Iliadou V, Pampanos A, Voyiatzis N, Economides J, Leotsakos P, Neou P, Tsakanikos M, Antoniadi T, Konstantopoulou I, Yannoukakos D, Grigoriadou M, Skevas A, Petersen M B
Abstract excerpt
Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual, sensorineural, nonsyndromic deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations and is one of the most frequent disease mutations identified so far with highest carrier frequency...
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