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[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].

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

Zheng Lei, Yan Yousheng, Chen Xue, Zhang Chuan, Zhang Qinghua, Feng Xuan, Hao Shen

Abstract excerpt

OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing....

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Source

Identifiers

PMID: 29419867
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.018

Genes

SOX10
MITF
PAX3
SNAI2

Variants

Provenance

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