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Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population

✍ Scribed by Haris Kokotas; Lut Van Laer; Maria Grigoriadou; Vassiliki Iliadou; John Economides; Stella Pomoni; Andreas Pampanos; Nikos Eleftheriades; Elisabeth Ferekidou; Stavros Korres; Aglaia Giannoulia-Karantana; Guy Van Camp; Michael B. Petersen


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
88 KB
Volume
146A
Category
Article
ISSN
1552-4825

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✍ Katrien Storm; Sandra Willocx; Kris Flothmann; Guy Van Camp πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 175 KB

Mutations in the gene GJB2, encoding the gap-junction protein connexin-26, have been shown to be a major cause of nonsyndromic recessive deafness (NSRD). A single mutation in the GJB2 gene accounts for the majority of NSRD in many different populations. This mutation represents a deletion of a guani