Article
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
Journal of medical genetics - 1 Jul 1998
de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M
Abstract excerpt
Congenital bilateral absence of the vas deferens (CBAVD) is a cause of male sterility mostly resulting from mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The most common defect is the 5T variant at the branch/acceptor site of intron 8, which induces high levels of exon 9 s...
Topics
- Alleles
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Gene Expression
- Genetic Variation
- Humans
- Introns
- Linkage Disequilibrium
- Male
- Phenotype
- Point Mutation
- RNA Splicing
- Vas Deferens