title: Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.
authors.forename: T
authors.initials: T
authors.lastname: Evans
authors.forename: A
authors.initials: A
authors.lastname: Poh
authors.forename: C
authors.initials: C
authors.lastname: Webb
authors.forename: B
authors.initials: B
authors.lastname: Wainwright
authors.forename: C
authors.initials: C
authors.lastname: Wicking
authors.forename: I
authors.initials: I
authors.lastname: Glass
authors.forename: W F
authors.initials: WF
authors.lastname: Carey
authors.forename: M
authors.initials: M
authors.lastname: Fietz
mesh_terms: D001315:Australia; D002478:Cells, Cultured; D005260:Female; D005333:Fetus; D005347:Fibroblasts / Q000502:physiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010088:Oxidoreductases / Q000097:blood / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011247:Pregnancy; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012867:Skin / Q000378:metabolism; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology* / Q000235:genetics
chemical_list: D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase