Article
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
Journal of medical genetics - 1 Jan 2008
Stanke F, Ballmann M, Bronsveld I, Dörk T, Gallati S, Laabs U, Derichs N, Ritzka M, Posselt H-G, Harms H K, Griese M, Blau H, Mastella G, Bijman J, Veeze H, Tümmler B
Abstract excerpt
BACKGROUND: Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases. METHODS: 17 individuals who are homozygous for deletions, missense, stop or splice site mutations in the CFTR gene were investigated for clinical symptoms of CF and assessed in CFTR function by sweat test, nasal potential difference...
Topics
- Adolescent
- Adult
- Child
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Female
- Genotype
- Homozygote
- Humans