A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
Toba
H
H
Fukuyama
R
R
Sasaki
M
M
Shiga
K
K
Ishibashi
S
S
Fushiki
S
S
D000328:Adult; D044466:Asian People / Q000235:genetics; D053493:Cholestanetriol 26-Monooxygenase; D003577:Cytochrome P-450 Enzyme System / Q000737:chemistry* / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary; D013250:Steroid Hydroxylases / Q000737:chemistry* / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000201:enzymology* / Q000235:genetics*
D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase