c.1058C>T variant in the SERPINC1 gene is pathogenic for antithrombin deficiency

Br J Haematol. 2015 Jul;170(1):123-5. doi: 10.1111/bjh.13261. Epub 2014 Dec 19.

Riten Kumar^{1

2}, Jennifer E Dawson^{3

4}, Anthony K C Chan^{5

6}, Julie D Forman-Kay^{3

4}, Walter H A Kahr^{4

7

8

9}, Suzan Williams^{8

9}

¹ Department of Pediatrics, The Ohio State University, Columbus, OH, USA. riten.kumar@nationwidechildrens.org.
² Division of Hematology/Oncology, Nationwide Children's Hospital, Columbus, OH, USA. riten.kumar@nationwidechildrens.org.
³ Program in Molecular Structure and Function, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
⁴ Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
⁵ Department of Paediatrics, McMaster University, Hamilton, ON, Canada.
⁶ Division of Haematology/Oncology, McMaster Children's Hospital, Hamilton, ON, Canada.
⁷ Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
⁸ Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
⁹ Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.

No abstract available

Keywords: antithrombin deficiency; genotype; phenotype.

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