Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleA Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.AuthorsToba, H; Fukuyama, R; Sasaki, M; Shiga, K; Ishibashi, S; Fushiki, SAbstractPresents the results of the genetic analysis of a patient with cerebrotendinous xanthomatosis (CTX). Manifestations of CTX; Analysis of chemical enzymes and genetic mutations associated with the disorder.SubjectsXANTHOMA; PATIENTS; MEDICAL geneticsPublicationClinical Genetics, 2002, Vol 61, Issue 1, p77ISSN0009-9163Publication typeArticleDOI10.1034/j.1399-0004.2002.610116.x