Thrombosis-associated hypofibrinogenemia: novel abnormal fibrinogen variant FGG c.8G>A with oxidative posttranslational modifications
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F22%3A00013344" target="_blank" >RIV/00023736:_____/22:00013344 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1097/MBC.0000000000001125" target="_blank" >https://doi.org/10.1097/MBC.0000000000001125</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/MBC.0000000000001125" target="_blank" >10.1097/MBC.0000000000001125</a>
Alternative languages
Result language
angličtina
Original language name
Thrombosis-associated hypofibrinogenemia: novel abnormal fibrinogen variant FGG c.8G>A with oxidative posttranslational modifications
Original language description
Here, we present the first case of fibrinogen variant FGG c.8G>A. We investigated the behaviour of this mutated fibrinogen in blood coagulation using fibrin polymerization, fibrinolysis, fibrinopeptides release measurement, mass spectrometry (MS), and scanning electron microscopy (SEM). The case was identified by routine coagulation testing of a 34-year-old man diagnosed with thrombosis. Initial genetic analysis revealed a heterozygous mutation in exon 1 of the FGG gene encoding gamma chain signal peptide. Fibrin polymerization by thrombin and reptilase showed the normal formation of the fibrin clot.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
<a href="/en/project/NV18-08-00149" target="_blank" >NV18-08-00149: Critical evaluation of the lipidome in acute coronary syndrome and acute stroke patients in correlation with the level of oxidative stress</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Blood coagulation & fibrinolysis
ISSN
0957-5235
e-ISSN
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Volume of the periodical
33
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
10
Pages from-to
228-237
UT code for WoS article
000803050700007
EID of the result in the Scopus database
2-s2.0-85131221626