title: Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
authors.forename: Marion
authors.initials: M
authors.lastname: Viel
authors.forename: Chrystel
authors.initials: C
authors.lastname: Leroy
authors.forename: Marie
authors.initials: M
authors.lastname: Des Georges
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator