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Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo
- 1.0390997 - ÚMCH 2013 RIV NL eng J - Journal Article
Kotlín, R. - Reicheltová, Z. - Suttnar, J. - Salaj, P. - Hrachovinová, I. - Riedel, Tomáš - Malý, M. - Oravec, M. - Kvasnička, J. - Dyr, J. E.
Two novel fibrinogen variants in the C-terminus of the B.beta.-chain: fibrinogen Rokycany and fibrinogen Znojmo.
Journal of Thrombosis and Thrombolysis. Roč. 30, č. 3 (2010), s. 311-318. ISSN 0929-5305. E-ISSN 1573-742X
R&D Projects: GA AV ČR KAN200670701
Institutional research plan: CEZ:AV0Z40500505
Keywords : fibrinogen * missense mutation * hypofibrinogenemia
Subject RIV: CD - Macromolecular Chemistry
Impact factor: 1.539, year: 2010
Hereditary dysfibrinogenemia is a rare disorder wherein an inherited abnormality in fibrinogen structure may result in defective fibrin function and/or structure. Congenital hypofibrinogenemia is a rare autosomal bleeding disorder, either recessive or dominant, characterized by a low fibrinogen plasma level. A 28-year-old asymptomatic woman (fibrinogen Rokycany) and a 54-year-old man with thrombosis and pulmonary embolism (fibrinogen Znojmo) were investigated for a suspected fibrinogen mutation after abnormal coagulation tests results were obtained.
Permanent Link: http://hdl.handle.net/11104/0219885
Number of the records: 1