[A paradigm to elucidate a congenital disease, cerebrotendinous xanthomatosis].
Okuda
K
K
Department of Surgery I, Miyazaki Medical College, Japan.
Setoguchi
T
T
D015650:24,25-Dihydroxyvitamin D 3 / Q000378:metabolism; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001927:Brain Diseases / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D053493:Cholestanetriol 26-Monooxygenase; D002777:Cholestanols / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D008930:Mitochondria, Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D010024:Osteoporosis / Q000378:metabolism; D017354:Point Mutation; D013250:Steroid Hydroxylases / Q000172:deficiency; D014973:Xanthomatosis / Q000201:enzymology / Q000209:etiology / Q000235:genetics*
D002777:Cholestanols; D015650:24,25-Dihydroxyvitamin D 3; C012832:cholestane-3,7,12,24,25-pentol; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase