Molecular structural analysis of a novel and de-novo mutation in the SERPINC1 gene associated with type 1 antithrombin deficiency

被引：3
|
作者：
Wang, Tzu-Fei [1 ]
Dawson, Jennifer E. [2 ,3 ]
Forman-Kay, Julie. D. [2 ,3 ]
Kahr, Walter H. A. [3 ,4 ,5 ]
Williams, Suzan [5 ]
Chan, Anthony K. [6 ]
Kumar, Riten [7 ]
机构：
[1] Ohio State Univ, Dept Internal Med, Div Hematol, Columbus, OH 43210 USA
[2] Hosp Sick Children, Res Inst, Program Mol Struct & Funct, Toronto, ON, Canada
[3] Univ Toronto, Dept Biochem, Toronto, ON, Canada
[4] Hosp Sick Children, Res Inst, Cell Biol Program, Toronto, ON, Canada
[5] Univ Toronto, Hosp Sick Children, Dept Paediat, Div Haematol Oncol, Toronto, ON, Canada
[6] McMaster Univ, McMaster Childrens Hosp, Dept Paediat, Div Haematol Oncol, Hamilton, ON, Canada
[7] Ohio State Univ, Dept Pediat, Div Hematol Oncol, Nationwide Childrens Hosp, Columbus, OH 43210 USA
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 2017年 / 177卷 / 04期
关键词：
antithrombin; SERPINC1; molecular structure; thermodynamic stability; thrombophilia;
D O I：
10.1111/bjh.14090
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：654 / 656
页数：3
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