Article
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
Lancet (London, England) - 17 May 2003
McKone Edward F, Emerson Scott S, Edwards Karen L, Aitken Moira L
Abstract excerpt
BACKGROUND: Over 1000 mutations of the cystic fibrosis transmembrane conductance regulator gene (CFTR) that cause cystic fibrosis have been identified. We examined the effect of CFTR genotype on mortality and disease phenotype. METHODS: Using the US Cystic Fibrosis Foundation National Registry, we did a retrospective cohort study to compare standardised mortality rates for the 11 most common genotypes...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Gene Frequency
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Phenotype
- Retrospective Studies
- Survival Rate