[Genotypes of cystic fibrosis (CF) reported in the world and polymorphisms of cystic fibrosis transmembrane conductance regulator (CFTR) gene in Japanese].

Abstract excerpt

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder in Caucasians. Since identification of the gene responsible for CF in 1989, over 400 sequential alterations of the CFTR gene have been tabulated by the CF Genetic Analysis Consortium. However, except for the delta F508 mutation, which occurs in approximately 70% of CF chromosomes, the worldwide frequency of most mutations in this gene is less...

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