A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). [electronic resource]
- Human mutation Jan 2005
- 72-81 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20115 doi
Adult Alleles Alternative Splicing Caco-2 Cells Cell Line Cystic Fibrosis--genetics Cystic Fibrosis Transmembrane Conductance Regulator--genetics DNA--metabolism DNA-Binding Proteins--metabolism Epididymis Exons HeLa Cells Humans Male Mutation Oligospermia--genetics Protein Binding Repetitive Sequences, Nucleic Acid Thymidine--analysis Transcription, Genetic Transfection Vas Deferens--abnormalities