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Article

A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.

Clinical neurology and neurosurgery - 1 Sept 2012

Koyama S, Kawanami T, Tanji H, Arawaka S, Wada M, Saito N, Kato T

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Share to Cholestanetriol 26-Monooxygenase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22336472
DOI: 10.1016/j.clineuro.2012.01.032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.PMID 22336472Read ↗

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Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.Semantic proximity Read ↗

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Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

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