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[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Li Shirong, Chen Yongping, Yuan Xiaoqin, Wei Qianqian, Ou Ruwei, Gu Xiaojing, Shang Huifang

Abstract excerpt

OBJECTIVE: To detect potential mutations of the spastic ataxia of Charlevoix-Saguenay (SACS) gene in a pedigree affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and her family members. All exons and flanking sequences of the SACS gene were analyzed by high-throughput sequencing. Suspected mutations...

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Identifiers

PMID: 30098244
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.010

Genes

SACS

Variants

Provenance

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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