title: Identification of two novel missense mutations causing severe factor XIII deficiency.
authors.affiliation: University Clinic of Haematology, Haemostasis Research Laboratory, University Hospital of Bern, Bern, Switzerland.|Department of Clinical Research, University of Bern, Bern, Switzerland.
authors.forename: H
authors.initials: H
authors.lastname: Handrkova
authors.affiliation: Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
authors.forename: M
authors.initials: M
authors.lastname: Borhany
authors.affiliation: University Clinic of Haematology, Haemostasis Research Laboratory, University Hospital of Bern, Bern, Switzerland.|Department of Clinical Research, University of Bern, Bern, Switzerland.
authors.forename: V
authors.initials: V
authors.lastname: Schroeder
authors.affiliation: Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
authors.forename: N
authors.initials: N
authors.lastname: Fatima
authors.affiliation: Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
authors.forename: A
authors.initials: A
authors.lastname: Hussain
authors.affiliation: Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.
authors.forename: T
authors.initials: T
authors.lastname: Shamsi
authors.affiliation: University Clinic of Haematology, Haemostasis Research Laboratory, University Hospital of Bern, Bern, Switzerland.|Department of Clinical Research, University of Bern, Bern, Switzerland.|Department of Internal Medicine, Spital Netz Bern, Bern, Switzerland.
authors.forename: H P
authors.initials: HP
authors.lastname: Kohler
mesh_terms: D000293:Adolescent; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D055815:Young Adult
chemical_list: D005176:Factor XIII
references.citation: Muszbek L, Bereczky Z, Bagoly Z, Komaromi I, Katona E. Factor XIII: a coagulation factor with multiple plasmatic and cellular functions. Physiol Rev 2011; 91: 931-72.
references.citation: Levy JH, Greenberg C. Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. Transfusion 2013; 53: 1120-31.
references.citation: Kohler HP, Ichinose A, Seitz R, Ariens RA, Muszbek L. Diagnosis and classification of factor XIII deficiencies. J Thromb Haemost 2011; 9: 1404-6.
references.citation: de Jager T, Pericleous L, Kokot-Kierepa M, Naderi M, Karimi M. The burden and management of FXIII deficiency. Haemophilia 2014; 20: 733-40.
references.citation: Schroeder V, Kohler HP. Factor XIII Deficiency: an Update. Semin Thromb Hemost 2013; 39: 632-41.
references.citation: Borhany M, Handrkova H, Cairo A et al. Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. Haemophilia 2014; 20: 568-74.
references.citation: Glaser F, Pupko T, Paz I et al. ConSurf: identification of functional regions in proteins by surface-mapping of phylogenetic information. Bioinformatics 2003; 19: 163-4.
references.citation: Mikkola H, Yee VC, Syrjala M et al. Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. Blood 1996; 87: 141-51.
references.citation: Shanbhag S, Shetty S, Ghosh K. Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: five novel mutations detected. Haemophilia 2011; 17: e843-5.