Article
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.
Clinical chemistry - 1 Feb 2007
Kennerson Marina L, Warburton Trent, Nelis Eva, Brewer Megan, Polly Patsie, De Jonghe Peter, Timmerman Vincent, Nicholson Garth A
Abstract excerpt
BACKGROUND: X-linked Charcot-Marie-Tooth type 1 disease has been associated with 280 mutations in the GJB1 [gap junction protein, beta 1, 32 kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)] gene. High-resolution melting analysis with an automated instrument can be used to scan DNA for alterations, but its use in X-linked disorders has not been described. METHODS: A 96-well LightScanner for high...
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