Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.

doi:10.1007/BF00194318

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Article

Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.

Human genetics - 1 Jun 1992

Wagner K, Zach M, Rosenkranz W

Abstract excerpt

The frequency of the major mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene was analyzed for 113 Austrian cystic fibrosis (CF) patients. An overall frequency of 55% for delta F508 was found with values of 72% and 13% for patients with pancreatic insufficiency (CF-PI...

Topics

Austria
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Exocrine Pancreatic Insufficiency
Gene Frequency
Genetic Markers
Haplotypes
Humans
Membrane Proteins
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

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