Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. We analyzed the CYP27A1 gene in two Japanese CTX patients. The CYP27A1 gene was amplified by PCR and screened by PCR-SSCP. The nucleotide sequence was a...

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Bibliographic Details

Published in:	Internal Medicine Vol. 49; no. 12; pp. 1127 - 1131
Main Authors:	Nozue, Tsuyoshi, Higashikata, Toshinori, Inazu, Akihiro, Kawashiri, Masa-aki, Nohara, Atsushi, Kobayashi, Junji, Koizumi, Junji, Yamagishi, Masakazu, Mabuchi, Hiroshi
Format:	Journal Article
Language:	English
Published:	Japan The Japanese Society of Internal Medicine 01-01-2010
Subjects:	27-hydroxylase Aged Asian Continental Ancestry Group - genetics cerebrotendinous xanthomatosis Cholestanetriol 26-Monooxygenase - genetics cholestanol gene mutation Genetic Carrier Screening Humans Male Mutation, Missense - genetics xanthoma Xanthomatosis, Cerebrotendinous - diagnosis Xanthomatosis, Cerebrotendinous - enzymology Xanthomatosis, Cerebrotendinous - genetics
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