title: Severe splice site mutation preceding exon 9 of the CFTR gene.
authors.affiliation: Klinische Forschergruppe Molekulare Pathologie der Mukoviszidose, OE 6710, Medizinische Hochschule Hannover, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Dörk
authors.forename: R
authors.initials: R
authors.lastname: Fislage
authors.forename: U
authors.initials: U
authors.lastname: Rappen
authors.forename: B
authors.initials: B
authors.lastname: Tümmler
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004200:Diseases in Twins / Q000235:genetics; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D012326:RNA Splicing; D012091:Repetitive Sequences, Nucleic Acid; D014430:Twins, Monozygotic / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator