Article
Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.
Genetic testing and molecular biomarkers - 1 Oct 2009
Fredj Sondess Hadj, Messaoud Taïeb, Templin Carine, des Georges Marie, Fattoum Slaheddine, Claustres Mireille
Abstract excerpt
AIM: To determine the frequency and types of mutations causing cystic fibrosis (CF) in Tunisia. METHODS: We analyzed the complete coding region and flanking intronic sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 68 unrelated patients suffering from the classical form of the disease. RESULTS: Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including...
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