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[Analysis of nuclear localization and signal function of MITF protein predisposing to Warrdenburg syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2015

Zhang Hua, Feng Juan, Chen Hongsheng, Li Jiada, Luo Hunjin, Feng Yong

Abstract excerpt

OBJECTIVE: To study the role of dysfunction of nuclear localization signals (NLS) of MITF protein in the pathogenesis of Waardenburg syndrome. METHODS: Eukaryotic expression plasmid pCMV-MITF-Flag was used as a template to generate mutant plasmid pCMV-MITF△NLS-Flag by molecular cloning technique in order to design the mutagenic primers. The UACC903 cells were transfected transiently with MITF and MITF△NLS...

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Source

Identifiers

PMID: 26663053
DOI: 10.3760/cma.j.issn.1003-9406.2015.06.011

Genes

MITF
TYR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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