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Article

[Analysis of genetic variant in a patient with juvenile meterochromic leukodystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Zhang Xiao, Li Miaomiao, Ma Jianhua, Zang Yucui, Wang Jingli, Xu Yinglei, Shen Lu, Liu Shiguo

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with metachromatic leukodystrophy (MLD). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members. Potential variant was screened by whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing. The pathogenicity the variant was analyzed by multiple...

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PMID: 36184090
DOI: 10.3760/cma.j.cn511374-20211015-00818

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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