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利用小鼠模型研究MYH7突变Gly823Glu在家族性肥厚型心肌病中的发病机制
JoVE Journal
Genetics
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JoVE Journal Genetics
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
DOI:

03:45 min

August 08, 2022

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Chapters

  • 00:04Introduction
  • 00:35Evaluation of the Cardiac Morphology and Function
  • 01:54Results: Validating the Pathogenicity of G823E Mutation Using the C57BL/6N Murine Model
  • 03:17Conclusion

Summary

Automatic Translation

基于我们临床工作中发现的家族性遗传性心肌病家族,我们通过CRISPR / Cas9介导的基因组工程在小鼠MYH7位点创建了一个具有点突变(G823E)的C57BL / 6N小鼠模型来验证该突变。

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