Article
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
Human genetics - 1 Dec 1995
Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M
Abstract excerpt
We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). This uncommon missense mutation (frequency less than 1% in a sample of 336 CF...
Topics
- Adolescent
- Adult
- Age of Onset
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Gene Frequency
- Genetic Carrier Screening
- Haplotypes
- Humans
- Introns
- Male
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic