Article
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.
European journal of human genetics : EJHG - 1 Jan 1995
Costes B, Girodon E, Ghanem N, Flori E, Jardin A, Soufir J C, Goossens M
Abstract excerpt
Isolated congenital bilateral absence of the vas deferens (CBAVD) is an autosomal recessive disorder which has recently been shown to be associated with cystic fibrosis (CF) mutations. As part of an effort to understanding the genetic basis of this disorder, we have analysed the entire coding seq...
Topics
- Alleles
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Heterozygote
- Humans
- Introns
- Male
- Mutation
- Nucleic Acid Denaturation
- Vas Deferens