Number of the records: 1
Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen
- 1.
SYSNO ASEP 0330045 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen Title Dva případy vrozené dysfibrinogenemie spojené s trombosou. Fibrinogen Praha III a Fibrinogen Plzen Author(s) Kotlín, R. (CZ)
Reicheltová, Z. (CZ)
Malý, M. (CZ)
Suttnar, J. (CZ)
Sobotková, A. (CZ)
Salaj, P. (CZ)
Hirmerová, J. (CZ)
Riedel, Tomáš (UMCH-V) RID, ORCID
Dyr, J. E. (CZ)Source Title Thrombosis and Haemostasis. - : Georg Thieme Verlag - ISSN 0340-6245
Roč. 102, č. 3 (2009), s. 479-486Number of pages 8 s. Language eng - English Country DE - Germany Keywords dysfibrinogenemia ; fibrinogen ; missense mutation Subject RIV CD - Macromolecular Chemistry R&D Projects KAN200670701 GA AV ČR - Academy of Sciences of the Czech Republic (AV ČR) CEZ AV0Z40500505 - UMCH-V (2005-2011) UT WOS 000269890200009 DOI 10.1160/TH08-11-0771 Annotation Congenital dysfibrinogenemia is a rare disease characterised by inherited abnormality in the fibrinogen molecule, resulting in functional defects. Two patients, a 26-year-old woman and a 61-year-old man, both with history of thrombotic events, had abnormal coagulation test results. DNA sequencing showed the heterozygous .gamma. Y363N mutation (Fibrinogen Praha 111) and the heterozygous A alpha N106D mutation (Fibrinogen Plzen), respectively. Fibrin polymerisation, after addition of either thrombin or reptilase, showed remarkably delayed polymerisation in both cases. Workplace Institute of Macromolecular Chemistry Contact Eva Čechová, cechova@imc.cas.cz ; Tel.: 296 809 358 Year of Publishing 2010
Number of the records: 1