A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency-Reference-Cited by-同舟云学术

A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency

Published:2011-12 Issue:8 Volume:22 Page:742-745
ISSN:0957-5235
Container-title:Blood Coagulation & Fibrinolysis
language:en
Short-container-title:

Author:

Jang Moon Ju,Lee Jeong-Guil,Chong So Young,Huh Ji Young,Jang Mi-Ae,Kim Hee-Jin,Oh Doyeun

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Hematology,General Medicine

Reference14 articles.

1. Antithrombin III synthesis in rat liver parenchymal cells.;Leon;Thromb Res,1983

2. Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options.;Maclean;Drugs,2007

3. Inherited antithrombin deficiency causing thrombophilia.;Egeberg;Thromb Diath Haemorrh,1965

4. Molecular genetics of antithrombin deficiency.;Lane;Blood Rev,1996

5. A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.;Yoo;Ann Clin Lab Sci,2011

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