Article
Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 + 10kbC > T: significance for geneticists.
American journal of medical genetics - 25 Sept 1995
Gilbert F, Li Z, Arzimanoglou I I, Bialer M, Denning C, Gorvoy J, Honorof J, Ores C, Quittell L, Arzimanoglou I
Abstract excerpt
We describe patients inheriting cystic fibrosis (CF) mutation 3849 + 10kb > T as homozygotes or compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic-sufficient and sweat test-negative or inconclusive. Among the compound heterozygotes, both pancreatic sufficien...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chlorides
- Cystic Fibrosis
- Forced Expiratory Volume
- Genotype
- Humans
- Mutation
- Pancreatic Function Tests
- Phenotype