Article
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.
Human mutation - 1 Jan 1992
Kälin N, Dörk T, Tümmler B
Abstract excerpt
German cystic fibrosis (CF) chromosomes were screened for molecular lesions in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by chemical cleavage of mismatch. An 3884G-to-A transition was detected in two patients which leads to an exchange of a serine by an aspara...
Topics
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Phenotype