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Article

[Study of gene mutation and pathogenetic mechanism for a family with Waardenburg syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2017

Chen Hongsheng, Liao Xinbin, Liu Yalan, He Chufeng, Zhang Hua, Jiang Lu, Feng Yong, Mei Lingyun

Abstract excerpt

OBJECTIVE: To explore the pathogenetic mechanism of a family affected with Waardenburg syndrome. METHODS: Clinical data of the family was collected. Potential mutation of the MITF, SOX10 and SNAI2 genes were screened. Plasmids for wild type (WT) and mutant MITF proteins were constructed to determine their exogenous expression and subcellular distribution by Western blotting and immunofluorescence assay,...

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Source

Identifiers

PMID: 28777840
DOI: 10.3760/cma.j.issn.1003-9406.2017.04.001

Genes

MITF
SNAI2
SOX10

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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