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Article

[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].

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

Tan Jianqiang, Yan Tizhen, Chang Rongni, Yuan Dejian, Pan Lizhen, Cai Ren

Abstract excerpt

OBJECTIVE: To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2....

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PMID: 31922589
DOI: 10.3760/cma.j.issn.1003-9406.2020.01.006

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