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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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • 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

  • 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