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Article

A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association - 1 Nov 2011

Chen Wen-Chau, Wu Kuo-Chen, Hu Chih-Hsiung, Chern Tai-Chang, Jou I-Ming

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

Share to Xanthomatosis, Cerebrotendinous

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PMID: 21553098
DOI: 10.1007/s00776-011-0072-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis.PMID 21553098Read ↗

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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 ↗

The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.Semantic proximity Read ↗

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

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Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.Semantic proximity Read ↗

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Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.Semantic proximity Read ↗

Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.Semantic proximity Read ↗

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