title: 1283 del A: a novel mutation in exon 8 of the cystic fibrosis gene.
authors.affiliation: Laboratoire de Biochimie Génétique and INSERM U 129, CHU Cochin, France.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: S
authors.initials: S
authors.lastname: Bousquet
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005602:France; D006801:Humans; D007231:Infant, Newborn; D008297:Male
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator