Article
Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system.
Clinical genetics - 1 Jul 2002
Andrieux J, Audrézet M P, Frachon I, Leroyer C, Roge C, Scotet V, Férec C
Abstract excerpt
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with different related disorders such as congenital bilateral absence of the vas deferens, chronic idiopathic pancreatitis, or disseminated bronchiectasis (DB). Many different disease-causing mutations are associated with DB, particularly the 5T allele (IVS 8 polyT tract), a variant of the splice acceptor site at the...
Topics
- Bronchiectasis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Fluorescent Dyes
- Genetic Variation
- Humans
- RNA Processing, Post-Transcriptional
- RNA Splicing