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《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:

2000年第1期

页码:

50-52

栏目:

综述

出版日期:

2000-01-25

文章信息/Info

Title:

-

作者:

李志立

第四军医大学唐都医院心内科， 陕西 西安 710032

Author(s):

-

关键词:

遗传性疾病; 心肌病; 肥厚性

Keywords:

-

分类号:

R596.1;R542.2

DOI:

-

文献标识码:

A

摘要:

家族性肥厚型心肌病是常染色体显性遗传性疾病，单一责任等位基因突变即可致病。近十年来使用微卫星基因标记技术，在该病家系中发现了7种致病责任基因，致病机制有“肽类毒剂”和“无效等位基因”两种学说。作者对责任基因的定位、肌原纤维节中突变蛋白的致病机制作一综述，并分析突变基因型与其表型的关系，以利于疾病的诊断和治疗。

Abstract:

-

参考文献/References

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备注/Memo

备注/Memo:

收稿日期：1999-03-08.

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更新日期/Last Update: 2000-01-25