Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population.

Abstract excerpt

Cystic fibrosis (CF) is caused by autosomal-recessive inheritance of a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR), up to 90% due to Phe508del mutation in the CFTR gene. We tested the hypothesis that CFTR Phe508del carriers have increased morbidity and mortality versus non-carriers in the general population.We genotyped 108 035 randomly selected white Danish individuals from the...

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