A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Abstract excerpt

INTRODUCTION: Cystic fibrosis (CF) is the most common autosomal recessive disease among Caucasians but is rarer in the Chinese population, because mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. OBJECTIVES: To elucidate the causative role of a novel compound heterozygous mutation of CF. MATERIALS AND METHODS: In this study, clinical samples were obtained from two siblings with...

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