Article
Genotype-phenotype relationships in cystic fibrosis.
The Medical clinics of North America - 1 May 2000
Mickle J E, Cutting G R
Abstract excerpt
The genotype-phenotype relationship in CF is complex despite its being a monogenic disorder. Factors that contribute to variability among individuals with the same genotype are an area of intense study. Nevertheless, certain conclusions can be derived from these studies. First, mutations in both CFTR alleles cause the CF phenotype. Homozygosity for delta F508 or compound heterozygosity for delta F508 and another...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Male
- Phenotype
- Prognosis