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Article

[Analysis on the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2007

Li Ming, Yang Li-jia, Zhu Xiao-hong, Zhang Hai-ping, Dai Xun-yi

Abstract excerpt

OBJECTIVE: To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria (DSH). METHODS: A pedigree of DSH was investigated. Mutation scanning was carried out by PCR and direct sequencing. ADAR gene of 50 normal people was also sequenced as control. Through CBMdisc and PubMed, the mutations of ADAR gene were summarized. RESULTS: A novel mutation of c.2447G > A was found in all...

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PMID: 17680540

Genes

ADAR

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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