Genotype-phenotype correlation in cystic fibrosis patients.

Article

Genotype-phenotype correlation in cystic fibrosis patients.

Annales de biologie clinique - 1 Jan 1996

Ferrari M, Cremonesi L

Abstract excerpt

Cystic fibrosis (CF) is the most common severe recessive disease in Caucasians. The gene responsible for the disease encodes a protein named cystic fibrosis transmembrane conductance regulator, which is predicted to function as a cAMP-regulated chloride channel. Reduced chloride secretion is at t...

Topics

Adult
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Exocrine Pancreatic Insufficiency
Female
Genotype
Humans
Infertility
Liver Diseases
Male
Middle Aged
Mutation
Phenotype

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