Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis [4]

MING-JEN LEEHuang Y.-C.Sweeney M.G.Wood N.W.Reilly M.M.Yip P.-K.2020-11-032020-11-0320020340-5354https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036039055&doi=10.1007%2fs00415-002-0762-9&partnerID=40&md5=885436b49c73c52989516aa81710d877https://scholars.lib.ntu.edu.tw/handle/123456789/519588[SDGs]SDG3sterol 27 hydroxylase; adult; case report; cerebrotendinous xanthomatosis; clinical feature; controlled study; disease course; DNA determination; familial disease; human; laboratory test; letter; male; mutation; nuclear magnetic resonance imaging; priority journal; Taiwan; Adult; Cytochrome P-450 CYP27A1; Humans; Magnetic Resonance Imaging; Male; Mutation; Mutation, Missense; Steroid Hydroxylases; Taiwan; Xanthomatosis, CerebrotendinousMutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis [4]letter10.1007/s00415-002-0762-9122425612-s2.0-0036039055