对人类MCPH1 DNA修复机制和遗传变异的分析

Oluwafemi G Oluwole1,2,3

  • 1Biomedical Research Centre, Nuffield Department of Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.

PubMed
概括

研究了与小头症和听力损失相关的MCPH1基因突变. 研究人员发现了罕见的MCPH1变异,揭示了对DNA修复和潜在疾病关联的新见解.

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