Article
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
The New England journal of medicine - 8 Aug 2002
Groman Joshua D, Meyer Michelle E, Wilmott Robert W, Zeitlin Pamela L, Cutting Garry R
Abstract excerpt
BACKGROUND: Cystic fibrosis is a life-limiting autosomal recessive disorder with a highly variable clinical presentation. The classic form involves characteristic findings in the respiratory tract, gastrointestinal tract, male reproductive tract, and sweat glands and is caused by loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR ) gene. Nonclassic forms of cystic fibrosis...
Topics
- Adolescent
- Adult
- Chi-Square Distribution
- Chlorides
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Female
- Gene Rearrangement
- Genetic Linkage
- Genotype
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Point Mutation
- Sweat