Article
Analysis of delta F508 mutation in cystic fibrosis pathology specimens.
Pediatric pathology - 1 Jan 2000
Ozgüç M, Tekin A, Erdem H, Yilmaz E, Ayter S, Coşkun T, Can A, Gögüş S, Caglar M, Kale G
Abstract excerpt
Incidence of delta F508, a severe mutation of the CFTR gene is found to be 36.3% in paraffin block cystic fibrosis liver tissues. Samples are histologically grouped according to severity of pancreatic involvement. Two families where delta F508 was detected postmortem and who have no living childr...
Topics
- Age Factors
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Primers
- Family Health
- Female
- Genotype
- Humans
- Liver
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Pancreas
- Paraffin Embedding
- Polymerase Chain Reaction