Article
Genetic determination of exocrine pancreatic function in cystic fibrosis.
American journal of human genetics - 1 Jun 1992
Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui L C, Durie P
Abstract excerpt
We showed elsewhere that the pancreatic function status of cystic fibrosis (CF) patients could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) gene. Although the majority of CF mutations--including the most common, delta F508--strongly correlated with pancreatic insufficiency (PI), approximately 10% of the mutant alleles may confer pancreatic sufficiency (PS). To extend this...
Topics
- Alleles
- Amino Acid Sequence
- Child
- Chromosome Deletion
- Chromosome Mapping
- Codon
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Exons
- Frameshift Mutation