A novel nonsense mutation in fgb (C.1421g>a, p.trp474ter) in the beta chain of fibrinogen causing hypofibrinogenemia with bleeding phenotype
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F20%3A00013172" target="_blank" >RIV/00023736:_____/20:00013172 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.3390/biomedicines8120605" target="_blank" >https://doi.org/10.3390/biomedicines8120605</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/biomedicines8120605" target="_blank" >10.3390/biomedicines8120605</a>
Alternative languages
Result language
angličtina
Original language name
A novel nonsense mutation in fgb (C.1421g>a, p.trp474ter) in the beta chain of fibrinogen causing hypofibrinogenemia with bleeding phenotype
Original language description
Congenital hypofibrinogenemia is a rare bleeding disorder characterized by a proportional decrease of functional and antigenic fibrinogen levels. Hypofibrinogenemia can be considered the phenotypic expression of heterozygous loss of function mutations occurring within one of the three fibrinogen genes (FGA, FGB, and FGG). Clinical manifestations are highly variable, most patients are usually asymptomatic, but may appear with mild to severe bleeding or thrombotic complications.
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
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Biomedicines
ISSN
2227-9059
e-ISSN
—
Volume of the periodical
8
Issue of the periodical within the volume
12
Country of publishing house
CH - SWITZERLAND
Number of pages
10
Pages from-to
"art. no. 605"
UT code for WoS article
000601643700001
EID of the result in the Scopus database
2-s2.0-85097837801