Article
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
Clinical chemistry - 1 Jun 1995
Jézéquel P, Dorval I, Fergelot P, Chauvel B, Le Treut A, Le Gall J Y, Le Lannou D, Blayau M
Abstract excerpt
Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied...
Topics
- Adult
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Exons
- Gene Deletion
- Genotype
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Polymerase Chain Reaction
- RNA Splicing
- Vas Deferens