Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis.

doi:10.1038/nm0795-703

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Article

Protection against bronchial asthma by CFTR delta F508 mutation: a heterozygote advantage in cystic fibrosis.

Nature medicine - 1 Jul 1995

Schroeder S A, Gaughan D M, Swift M

Abstract excerpt

Cystic fibrosis (CF) is a multisystem autosomal recessive disorder caused by mutations of the cystic fibrosis transmembrane regulator (CFTR), a protein that regulates cyclic-AMP-mediated chloride conductance at the apical membrane of secretory epithelia. Mutations in the CFTR gene are common in m...

Topics

Adult
Alleles
Asthma
Cystic Fibrosis
Disease Susceptibility
Exons
Female
Genetic Predisposition to Disease
Heterozygote
Humans
Male
Middle Aged
New York
Point Mutation
Prevalence
Selection, Genetic

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