title: Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome.
authors.forename: H R
authors.initials: HR
authors.lastname: Waterham
authors.forename: W
authors.initials: W
authors.lastname: Oostheim
authors.forename: G J
authors.initials: GJ
authors.lastname: Romeijn
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D017354:Point Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase