Article
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.
American journal of medical genetics. Part A - 15 Nov 2008
Kokotas Haris, Van Laer Lut, Grigoriadou Maria, Iliadou Vassiliki, Economides John, Pomoni Stella, Pampanos Andreas, Eleftheriades Nikos, Ferekidou Elisabeth, Korres Stavros, Giannoulia-Karantana Aglaia, Van Camp Guy, Petersen Michael B
Abstract excerpt
Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to 40% of congenital, autosomal recessive, severe to profound hearing impairment cases result from mutations in a single gene, GJB2, that encodes the connexin 26 protein. One specific mutation in this gene, 35delG, accounts for the majority of GJB2 mutations detected in...
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