Article
Coincidence of mutations in different connexin genes in Hungarian patients.
International journal of molecular medicine - 1 Sept 2007
Tóth Tímea, Kupka Susan, Haack Birgit, Fazakas Ferenc, Muszbek Laszló, Blin Nikolaus, Pfister Markus, Sziklai István
Abstract excerpt
Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. Several studies indicate that different members of the connexin protein family interact to form gap junctions in the inner ear. Mutations in different connexin genes may accumulate and, consequently lead to hearing impairment. Therefore, we screened 47 Hungarian GJB2- heterozygous (one...
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