Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis

OBJECTIVES—A Japanese family with cerebrotendinous xanthomatosis (CTX) was investigated for a sequence alteration in the sterol 27-hydroxylase gene (CYP27). The expression of CYP27 has been mostly explored using cultured fibroblasts, prompting the examination of the transcripts from blood leucocytes...

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Bibliographic Details
Main Authors: Shiga, K, Fukuyama, R, Kimura, S, Nakajima, K, Fushiki, S
Format: Artigo
Language:Inglês
Published: BMJ Group 1999
Subjects:
Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736608/
https://ncbi.nlm.nih.gov/pubmed/10519880
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