title: A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.
authors.affiliation: Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249, Institut de Biologie, Montpellier, France.
authors.forename: J F
authors.initials: JF
authors.lastname: Culard
authors.forename: M
authors.initials: M
authors.lastname: Desgeorges
authors.forename: M C
authors.initials: MC
authors.lastname: Romey
authors.forename: P
authors.initials: P
authors.lastname: Malzac
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: 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*
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator