TY  - GEN
AU  - Disset,Antoine
AU  - Michot,Carine
AU  - Harris,Ann
AU  - Buratti,Emanuele
AU  - Claustres,Mireille
AU  - Tuffery-Giraud,Sylvie
TI  - 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)
SN  - 1098-1004
PY  - 2006///0227
KW  - Adult
KW  - Alleles
KW  - Alternative Splicing
KW  - Caco-2 Cells
KW  - Cell Line
KW  - Cystic Fibrosis
KW  - genetics
KW  - Cystic Fibrosis Transmembrane Conductance Regulator
KW  - DNA
KW  - metabolism
KW  - DNA-Binding Proteins
KW  - Epididymis
KW  - Exons
KW  - HeLa Cells
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Oligospermia
KW  - Protein Binding
KW  - Repetitive Sequences, Nucleic Acid
KW  - Thymidine
KW  - analysis
KW  - Transcription, Genetic
KW  - Transfection
KW  - Vas Deferens
KW  - abnormalities
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20115
ER  -