title: A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
authors.affiliation: Laboratoire de Biochimie B, C.H.U. de Caen, France. mittre-h@chu-caen.fr
authors.forename: H
authors.initials: H
authors.lastname: Mittre
authors.forename: J F
authors.initials: JF
authors.lastname: Duhamel
authors.forename: G
authors.initials: G
authors.lastname: Abeguile
authors.forename: M
authors.initials: M
authors.lastname: Lemaire
authors.forename: P
authors.initials: P
authors.lastname: Leymarie
mesh_terms: D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator