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A New, Easy, and Rapid High-Throughput Detection Method for the Common GJB2 ( CX26 ), 35delG Mutation

✍ Scribed by Van Eyken, E.; Van Camp, G.; Hendrickx, J.J.; Demeester, K.; Vandevelde, A.; Azza, J. Ben; Van de Heyning, P.; Van Laer, L.

Book ID
118008068
Publisher
Mary Ann Liebert
Year
2007
Tongue
English
Weight
109 KB
Volume
11
Category
Article
ISSN
1090-6576

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Determination of the carrier frequency o
Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
✍ 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