Article
The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece.
Genetic testing - 1 Jan 2005
Lucotte Gérard, Diéterlen Florent
Abstract excerpt
The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus represents the most common mutation in Caucasian patients with genetic sensorineural deafness. This new meta-analysis concerns published carrier frequencies of the 35delG mutation in 27 populations for 6,628 unrelated individuals in Europe and in the Middle East; the mean carrier frequency of the mutation is 1.9%. Compared on a regional basis,...
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