Two novel fibrinogen variants in the C-terminus of the B beta-chain: fibrinogen Rokycany and fibrinogen Znojmo

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F10%3A6877" target="_blank" >RIV/00216208:11110/10:6877 - isvavai.cz</a>
Alternative codes found
RIV/00023736:_____/10:00008634 RIV/00216208:11130/10:6318 RIV/00064203:_____/10:6318 RIV/00064165:_____/10:6877 RIV/61389013:_____/10:00390997
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Two novel fibrinogen variants in the C-terminus of the B beta-chain: fibrinogen Rokycany and fibrinogen Znojmo
Original language description
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.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2010
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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