title: c.1058C>T variant in the SERPINC1 gene is pathogenic for antithrombin deficiency.
authors.affiliation: Department of Pediatrics, The Ohio State University, Columbus, OH, USA. riten.kumar@nationwidechildrens.org.|Division of Hematology/Oncology, Nationwide Children's Hospital, Columbus, OH, USA. riten.kumar@nationwidechildrens.org.
authors.forename: Riten
authors.initials: R
authors.lastname: Kumar
authors.affiliation: Program in Molecular Structure and Function, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Dawson
authors.affiliation: Department of Paediatrics, McMaster University, Hamilton, ON, Canada.|Division of Haematology/Oncology, McMaster Children's Hospital, Hamilton, ON, Canada.
authors.forename: Anthony K C
authors.initials: AK
authors.lastname: Chan
authors.affiliation: Program in Molecular Structure and Function, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
authors.forename: Julie D
authors.initials: JD
authors.lastname: Forman-Kay
authors.affiliation: Department of Biochemistry, University of Toronto, Toronto, ON, Canada.|Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.|Department of Paediatrics, University of Toronto, Toronto, ON, Canada.|Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Walter H A
authors.initials: WH
authors.lastname: Kahr
authors.affiliation: Department of Paediatrics, University of Toronto, Toronto, ON, Canada.|Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Suzan
authors.initials: S
authors.lastname: Williams
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency / Q000097:blood / Q000235:genetics*; D001483:Base Sequence; D001777:Blood Coagulation / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype
chemical_list: C542513:SERPINC1 protein, human; D000990:Antithrombin III
keywords: antithrombin deficiency; genotype; phenotype