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 gives rise to two transcripts, one normal with exon 9 intact and the other with in-frame deletion of exon 9. That CBAVD men...
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