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

@article{Li2007AnalysisOT,
  title={[Analysis on the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria].},
  author={Ming Li and Li-jia Yang and Xiao-hong Zhu and Hai-Ping Zhang and Xun-yi Dai},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={2007},
  volume={24 4},
  pages={
          446-8
        }
}
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 patients with DSH, but was not found in normal individuals in this DSH family and 50… CONTINUE READING

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