Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.

doi:10.1007/s004390050744

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Article

Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.

Human genetics - 1 May 1998

Mekus F, Ballmann M, Bronsveld I, Dörk T, Bijman J, Tümmler B, Veeze H J

Abstract excerpt

Cystic fibrosis (CF) is considered to be a monogenic disease caused by molecular lesions within the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is diagnosed by elevated sweat electrolytes. We have investigated the clinical manifestations of cystic fibrosis, CFTR genetics a...

Topics

Adult
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Diagnosis, Differential
Electrophysiology
Haplotypes
Humans
Phenotype

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