Article
Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
American journal of human genetics - 1 Aug 1992
Hamosh A, King T M, Rosenstein B J, Corey M, Levison H, Durie P, Tsui L C, McIntosh I, Keston M, Brock D J
Abstract excerpt
The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third most common cystic fibrosis (CF) mutation, with a worldwide frequency of 3.1% among CF chromosomes. Regions with a high frequency correspond to areas with large populations of Celtic descent. To determine whether...
Topics
- Adolescent
- Aspartic Acid
- Child
- Child, Preschool
- Codon
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Glycine
- Homozygote
- Humans