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).
Disset, Antoine
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
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