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Article

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

Journal of clinical lipidology - 1 Jan 2000

Lee Chia-Wei, Lee Jun-Jun, Lee Yen-Feng, Wang Pei-Wen, Pan Tai-Long, Chang Wen-Neng, Tsai Meng-Han

Abstract excerpt

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder associated with mutations in the CYP27A1 gene, and the genetic features of CTX in Taiwanese have not been examined before. OBJECTIVES: We report a new CTX family with a novel mutation in the CYP27A1 gene and analyze the clinical and molecular genetic features of CTX in Taiwan. METHODS: The clinical and molecular...

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Identifiers

PMID: 31706903
DOI: 10.1016/j.jacl.2019.10.001

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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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