Molecular structural analysis of a novel and de-novo mutation in the SERPINC1 gene associated with type 1 antithrombin deficiency.
Department of Internal Medicine, Division of Hematology, The Ohio State University, Columbus, OH, USA.
Tzu-Fei
TF
Wang
Program in Molecular Structure and Function, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Biochemistry, University of Toronto, ON, Canada.
Jennifer E
JE
Dawson
Program in Molecular Structure and Function, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Biochemistry, University of Toronto, ON, Canada.
Julie D
JD
Forman-Kay
Department of Biochemistry, University of Toronto, ON, Canada.|Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Walter H A
WHA
Kahr
Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Suzan
S
Williams
Department of Paediatrics, Division of Haematology/Oncology, McMaster Children's Hospital, McMaster University, Hamilton, ON, Canada.
Anthony K
AK
Chan
Department of Pediatrics, Division of Hematology/Oncology, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, USA.
Riten
R
Kumar
D000328:Adult; D000990:Antithrombin III / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D020152:Antithrombin III Deficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D004789:Enzyme Activation; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007118:Immunoassay; D008958:Models, Molecular; D009154:Mutation; D011487:Protein Conformation; D013329:Structure-Activity Relationship
C542513:SERPINC1 protein, human; D000990:Antithrombin III

SERPINC1
; antithrombin; molecular structure; thermodynamic stability; thrombophilia