Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome.
Waterham
H R
HR
Oostheim
W
W
Romeijn
G J
GJ
Wanders
R J
RJ
Hennekam
R C
RC
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*
D018076:DNA, Complementary; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase