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

页码：654 / 656

页数：3

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