Article
Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.
Gut - 1 Aug 2003
Ahmed N, Corey M, Forstner G, Zielenski J, Tsui L-C, Ellis L, Tullis E, Durie P
Abstract excerpt
BACKGROUND AND AIMS: We tested the hypothesis that the actual or predicted consequences of mutations in the cystic fibrosis transmembrane regulator gene correlate with the pancreatic phenotype and with measures of quantitative exocrine pancreatic function. METHODS: We assessed 742 patients with cystic fibrosis for whom genotype and clinical data were available. At diagnosis, 610 were pancreatic insufficient, 110...
Topics
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exocrine Pancreatic Insufficiency
- Female
- Genotype
- Humans
- Infant
- Male
- Mutation
- Pancreas