Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
Lee
Ming-Jen
MJ
Huang
Yuan-Chung
YC
Sweeney
Mary G
MG
Wood
Nicholas W
NW
Reilly
Mary M
MM
Yip
Ping-Keung
PK
D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D013250:Steroid Hydroxylases / Q000235:genetics*; D013624:Taiwan; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics* / Q000473:pathology
D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase