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Article

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

Journal of neurology - 1 Sept 2002

Lee Ming-Jen, Huang Yuan-Chung, Sweeney Mary G, Wood Nicholas W, Reilly Mary M, Yip Ping-Keung

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Share to Cholestanetriol 26-Monooxygenase
Share to Magnetic Resonance Imaging
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Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Steroid Hydroxylases

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Share to Xanthomatosis, Cerebrotendinous

Source

Identifiers

PMID: 12242561
DOI: 10.1007/s00415-002-0762-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.PMID 12242561Read ↗

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Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.Semantic proximity Read ↗

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