Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.

doi:10.1007/BF00201659

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Article

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.

Human genetics - 1 Apr 1994

Dean M, Santis G

Abstract excerpt

Cystic fibrosis is a common, fatal disorder caused by abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR encodes a chloride channel that regulates secretion in many exocrine tissues. The presentation of cystic fibrosis is highly variable as measured by the...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Diabetes Mellitus, Type 1
Exocrine Glands
Humans
Infertility, Male
Lung Diseases
Male
Membrane Proteins
Mutation
Pancreas
Severity of Illness Index
Vas Deferens

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