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[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations]

Hao-yu Deng1, Jia-quan Chen, Hui Xie

  • 1Department of Vascular Surgery, Shanghai JiaoTong University, Shanghai, China.

Zhonghua Yi Xue Za Zhi
|April 13, 2013
PubMed
Abstract

Insights

Novel mutations in antithrombin (AT) disrupt its secretion, leading to AT deficiency. The AT-c.342T > G mutation causes protein aggregation in the ER, explaining deficiency in a specific pedigree.

Area of Science:

  • Molecular biology and genetics
  • Protein biochemistry
  • Medical genetics

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