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Article

A new CYP27A1 mutation in a case of cerebrotendinous xanthomatosis.

Neurologia - 1 Jun 2023

Zhang S Y, Qian F Y, Yuan B Y, Guo Y J

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37263730
DOI: 10.1016/j.nrleng.2022.02.001

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

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