A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
Culard
J F
JF
Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249, Institut de Biologie, Montpellier, France.
Desgeorges
M
M
Romey
M C
MC
Malzac
P
P
Demaille
J
J
Claustres
M
M
D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D005796:Genes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009845:Oligospermia / Q000235:genetics*; D017354:Point Mutation; D012326:RNA Splicing; D017384:Sequence Deletion; D014649:Vas Deferens / Q000002:abnormalities*
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator