Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis [4]
Journal
Journal of Neurology
Journal Volume
249
Journal Issue
9
Pages
1311-1312
Date Issued
2002
Author(s)
SDGs
Other Subjects
sterol 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, Cerebrotendinous
Type
letter