Article
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
American journal of human genetics - 1 Nov 1994
Morral N, Llevadot R, Casals T, Gasparini P, Macek M, Dörk T, Estivill X
Abstract excerpt
Microsatellite analysis of chromosomes carrying particular cystic fibrosis mutations has shown different haplotypes in four cases: R334W, R347P, R1162X, and 3849 + 10kbC-->T. To investigate the possibility of recurrence of these mutations, analysis of intra- and extragenic markers flanking these mutations has been performed. Recurrence is the most plausible explanation, as it becomes necessary to postulate either...
Topics
- Base Sequence
- Chromosome Aberrations
- Chromosome Mapping
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Haplotypes
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation