Article
Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.
Electrophoresis - 1 Aug 2004
Wong Lee-Jun C, Alper Ozgül M
Abstract excerpt
Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases with variable incidences and mutation spectra among different ethnic groups. Current commercially available mutation panels designed for the analysis of known recurrent mutations have a detection rate between 38 to 95%, depending upon the ethnic...
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