Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.
Evans
T
T
Poh
A
A
Webb
C
C
Wainwright
B
B
Wicking
C
C
Glass
I
I
Carey
W F
WF
Fietz
M
M
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
D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase