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Article

[Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria].

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

Zeng Rong, Wang Liwei, Hui Yun, He Yanyan, Cui Pangen, Xu Haoxiang, Li Min

Abstract excerpt

OBJECTIVE: To detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH). METHODS: Clinical data and peripheral blood samples of the patients from the pedigree were collected. Potential mutations of the ADAR1 gene were screened among 2 patients, 2 unaffected individual from the pedigree as well as 50 unrelated healthy controls by PCR...

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Source

Identifiers

PMID: 29896739
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.019

Genes

ADAR

Variants

Provenance

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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