Article
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Genomics - 1 May 1991
Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens J M, Tsui L C
Abstract excerpt
Five different mutations have been identified in the gene causing cystic fibrosis (CF) through sequencing regions encompassing exons 1-8, including the 5' untranslated leader. Two of these apparent mutations are missense mutations, one in exon 3 (Gly to Glu at position 85; G85E) and another in ex...
Topics
- Base Sequence
- Chromosome Deletion
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Mutational Analysis
- Exons
- Frameshift Mutation
- Genetic Variation
- Haplotypes
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- RNA Splicing