Article
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.
Human genetics - 1 Dec 1992
Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J
Abstract excerpt
We have analyzed 131 unrelated families from Southern France for 29 known cystic fibrosis (CF) mutations identified in 8 exons of the cystic fibrosis transmembrane regulator gene. All these mutations were detected by amplification of DNA by the polymerase chain reaction (PCR) followed by restriction enzyme digestion or hybridization with allele specific oligoprobes. The most frequent mutations after the delta...
Topics
- Chromosomes, Human
- Codon
- Cystic Fibrosis
- France
- Gene Deletion
- Haplotypes
- Humans
- Mutation
- Polymerase Chain Reaction