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家族性肥厚型心肌病的基因型、基因表型及发病机制 被引量:2

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摘要 家族性肥厚型心肌病 (FHCM)致病基因序列及其突变位点的明确 ,以及对基因型与基因表型关系及发病机制的阐释为精确定性的临床诊断和针对高危病人的重点监测和积极治疗提供了可靠依据。
出处 《中国循环杂志》 CSCD 北大核心 2001年第1期74-76,共3页 Chinese Circulation Journal
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参考文献3

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同被引文献19

  • 1石琳,申阿东,李晓峰,柏松,关晓蕾,李仲智.中国先天性心脏病Nkx2.5基因突变筛查及关联研究[J].首都医科大学学报,2005,26(5):525-528. 被引量:19
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  • 7Inga A, Reamon-Buettner SM, Borlak J, et al. Functional dissection of sequence specific NKx 2.5 DNA binding domain mutations associated with human heart septation defects using a yeast based system. Hum Mol Genet,2005,14 (14) : 1965-1975.
  • 8Jay PY, Harris BS, Maguire CT, et al. Nkx-2, 5 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest, 2004,113:1130-1137.
  • 9Yu Chen, Zengqiang Han, Chuzhong Tang, et al. A novel mutation in GATA-4 gene associated with dominant inherited familial atrial septal defect. J Thorac Cardiovascr Surg,2010,140(3) : 684-687.
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