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[The c.3463C>T mutation of the ADAR1 gene in patients with dyschromatosis symmetrical hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2010

Song Jun, Zhou Huan, Lu Ren-qi, Zhang Li-ping, Sun Hong

Abstract excerpt

OBJECTIVE: To analyze the mutation of the adenosine deaminase acting on RNA 1 (ADAR1) gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH). METHODS: Mutation analysis of the ADAR1 gene was carried out by PCR and direct DNA sequencing in the DSH family, as well as in 50 unrelated healthy controls. RESULTS: A missense mutation of c.3463C>T, which results in p.R1155W in the ADAR1 protein, was found...

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PMID: 20931541
DOI: 10.3760/cma.j.issn.1003-9406.2010.05.022

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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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