Article
[Twenty years of clinical studies of GJB2-linked hearing loss in Russia].
Vestnik otorinolaringologii - 1 Jan 2000
Markova T G, Bliznetz E A, Polyakov A V, Tavartkiladze G A
Abstract excerpt
The most common cause of congenital hereditary hearing loss was discovered 20 years ago in 1997 when GJB2 gene was revealed in the first locus of recessive hearing loss DFNB1. It encodes protein connexin 26, a structural component of the intercellular channels. Recessive mutations in this gene cause the congenital bilateral sensorineural hearing loss. For many years the aim of our work was to study the prevalence...
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