title: Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long-term treatment with subcutaneous protein C concentrate.
authors.affiliation: Haematology, Flinders Medical Centre, Adelaide, SA, Australia. jir.boey@health.sa.gov.au.|Haematology and Genetic Pathology, Flinders University, Adelaide, SA, Australia. jir.boey@health.sa.gov.au.|Haematology, SA Pathology, Adelaide, SA, Australia. jir.boey@health.sa.gov.au.
authors.forename: Jir P
authors.initials: JP
authors.lastname: Boey
authors.affiliation: Genetic and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Jolley
authors.affiliation: Genetic and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
authors.forename: Catherine
authors.initials: C
authors.lastname: Nicholls
authors.affiliation: Genetic and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
authors.forename: Nancy
authors.initials: N
authors.lastname: Lerda
authors.affiliation: Haematology, SA Pathology, Adelaide, SA, Australia.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Duncan
authors.affiliation: Haematology, Flinders Medical Centre, Adelaide, SA, Australia.|Haematology and Genetic Pathology, Flinders University, Adelaide, SA, Australia.|Haematology, SA Pathology, Adelaide, SA, Australia.
authors.forename: Alexander
authors.initials: A
authors.lastname: Gallus
authors.affiliation: Haematology, Flinders Medical Centre, Adelaide, SA, Australia.|Haematology and Genetic Pathology, Flinders University, Adelaide, SA, Australia.|Haematology, SA Pathology, Adelaide, SA, Australia.
authors.forename: David M
authors.initials: DM
authors.lastname: Ross
authors.affiliation: Haematology, Flinders Medical Centre, Adelaide, SA, Australia.|Haematology, SA Pathology, Adelaide, SA, Australia.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Sobieraj-Teague
mesh_terms: D000293:Adolescent; D000328:Adult; D002388:Catastrophic Illness; D002648:Child; D005260:Female; D005343:Fibrinolytic Agents / Q000627:therapeutic use*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011486:Protein C / Q000627:therapeutic use*; D020151:Protein C Deficiency / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D005343:Fibrinolytic Agents; D011486:Protein C
keywords: compound heterozygote; frameshift mutation; protein C deficiency; rivaroxaban; subcutaneous infusion