Structural and functional characterization of four novel fibrinogen mutations in FGB causing congenital fibrinogen disorder

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F22%3A00013343" target="_blank" >RIV/00023736:_____/22:00013343 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.3390/ijms23020721" target="_blank" >https://doi.org/10.3390/ijms23020721</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/ijms23020721" target="_blank" >10.3390/ijms23020721</a>

Result language
angličtina
Original language name
Structural and functional characterization of four novel fibrinogen mutations in FGB causing congenital fibrinogen disorder
Original language description
Congenital fibrinogen disorders are caused by mutations in genes coding for fibrinogen and may lead to various clinical phenotypes. Here, we present a functional and structural analysis of 4 novel variants located in the FGB gene coding for fibrinogen Bβ chain-heterozygous missense BβY416C and BβA68S, homozygous nonsense BβY345*, and heterozygous nonsense BβW403* mutations. The cases were identified by coagulation screening tests and further investigated by various methods. Fibrin polymerization had abnormal development with decreased maximal absorbance in all patients.
Czech name
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Czech description
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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

Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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