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Article

[Detection and analysis of dynamic variant in a pedigree affected with spinocerebellar ataxia type 3].

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

Chen Chen, Zhao Xuechao, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To analyze the dynamic variant and clinical subtype of a pedigree affected with spinocerebellar ataxia (SCA) by using fluorescent-labeled primer combined with capillary electrophoresis. METHODS: Genomic DNA was extracted from 8 members including 6 patients and 2 healthy individuals from the pedigree. Six pairs of fluorescent-labeled primers were designed to screen pathological variants in association...

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PMID: 33306823
DOI: 10.3760/cma.j.cn511374-20191225-00662

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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