Article
A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation.
Genetic testing - 1 Jan 2007
Van Eyken E, Van Camp G, Hendrickx J J, Demeester K, Vandevelde A, Azza J Ben, Van de Heyning P, Van Laer L
Abstract excerpt
GJB2 (Gap Junction protein beta type 2; Connexin 26, CX26) is known for its contribution to nonsyndromic recessive deafness (NSRD). One particular mutation, 35delG, a deletion of one guanine from a stretch of six leading to a frame shift early in the gene, has a high prevalence in populations from European descent. 35delG testing therefore has become a standard test in genetic diagnostic laboratories. Most of the...
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