Article
Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
International journal of pediatric otorhinolaryngology - 2 Sept 2002
Pampanos Andreas, Economides John, Iliadou Vassiliki, Neou Polyxeni, Leotsakos Paulos, Voyiatzis Nikolaos, Eleftheriades Nikolaos, Tsakanikos Michael, Antoniadi Thalia, Hatzaki Angeliki, Konstantopoulou Irene, Yannoukakos Drakoulis, Gronskov Karen, Brondum-Nielsen Karen, Grigoriadou Maria, Gyftodimou Jolanda, Iliades Theophilos, Skevas Antonios, Petersen Michael B
Abstract excerpt
OBJECTIVE: Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations. The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in...
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