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Article

[Genetic analysis of a patient with late infantile metachromatic leukodystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2020

Yang Ke, Zhang Yuwei, Lou Guiyu, Qi Na, Wang Ling, Zhu Hongjie, Zhang Bing, Wang Dan, Liao Shixiu

Abstract excerpt

OBJECTIVE: To detect variants of ARSA gene in a child featuring late infantile metachromatic leukodystrophy (MLD). METHODS: PCR and Sanger sequencing was carried out for the patient and her parents. RESULTS: The patient had typical features of MLD including ARSA deficiency, regression of walking ability, and demyelination. Compound heterozygous variants of the ARSA gene, namely c.960G>A and c.244C>T, were...

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Identifiers

PMID: 32034743
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.013

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