Article
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
Human genetics - 1 Aug 1991
Dörk T, Wulbrand U, Richter T, Neumann T, Wolfes H, Wulf B, Maass G, Tümmler B
Abstract excerpt
Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discovered in a pancreas-insufficient patient with cystic fibrosis (CF) who displayed an uncommon combination of almost normal chloride concentration in sweat tests and typical symptoms of gastrointestinal...
Topics
- Amino Acid Sequence
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Electrophoresis, Polyacrylamide Gel
- Exons
- Genotype
- Haplotypes
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction