Article
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.
Human molecular genetics - 1 Nov 1997
Mak V, Jarvi K A, Zielenski J, Durie P, Tsui L C
Abstract excerpt
The 5-thymidine (5T) variant of the cystic fibrosis transmembrane conductance regulator (CFTR) intron 8 polypyrimidine tract (IVS8-T tract) is the most frequent CFTR gene alteration identified in men with congenital bilateral absence of vas deferens (CBAVD). This alternative splicing variant give...
Topics
- Alleles
- Cystic Fibrosis Transmembrane Conductance Regulator
- Epithelium
- Exons
- Genotype
- Humans
- Introns
- Male
- Nasal Mucosa
- Poly T
- Polymerase Chain Reaction
- RNA, Messenger
- Vas Deferens
