Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.

Abstract excerpt

AIMS: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In the present study, for the first time, we determined the spectrum of CFTR gene mutations in 100 patients with CF originated from the Iranian Azeri Turkish ethnic group. RESULTS: Here, we report identification of 17 previously known and one novel mutation, namely K1302X, in...

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