Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience.

Abstract excerpt

BACKGROUND: Cystic fibrosis, the most prevalent autosomal recessive genetic disease, is caused by mutations in the CFTR gene. The spectrum and frequency of CFTR mutations in Turkish patients show heterogeneity. METHODS: We investigated CFTR gene mutations in samples from 604 cystic fibrosis patients diagnosed at Hacettepe University, the largest referral CF center in Turkey, by different techniques such as strip...

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