Fibrinogen Gdansk: Hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro)
Publication type: Journal Article
Publication date: 2012-09-01
scimago Q2
wos Q2
SJR: 0.972
CiteScore: 5.8
Impact factor: 3.4
ISSN: 00493848, 18792472
PubMed ID:
22795623
Hematology
Abstract
Fibrinogen is the soluble precursor of fibrin, the main protein of the blood clot and secondary hemostatic clot. Fibrinogen is a hexameric protein formed from two copies of three related polypeptide chains, Aα, Bβ and γ [1], and is encoded by a compact cluster of three genes, FGA, FGB and FGG, located on the long arm of human chromosome 4 (4q32) [2]. A mutation in any of these genes can lead to congenital hypofibrinogenemia, a condition characterized by fibrinogen concentrations below 1.5g/l. In most cases, congenital hypofibrinogenemia results from mutation of FGA; however missense mutations located in the conserved C-terminal globular D domain of the gamma chain encoded by FGG are also relatively common [3–7].
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Mital A. et al. Fibrinogen Gdansk: Hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro) // Thrombosis Research. 2012. Vol. 130. No. 3. p. e196-e197.
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Mital A., Undas A., Neerman-Arbez M., HELLMANN A. Fibrinogen Gdansk: Hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro) // Thrombosis Research. 2012. Vol. 130. No. 3. p. e196-e197.
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TY - JOUR
DO - 10.1016/j.thromres.2012.06.021
UR - https://doi.org/10.1016/j.thromres.2012.06.021
TI - Fibrinogen Gdansk: Hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro)
T2 - Thrombosis Research
AU - Mital, Andrzej
AU - Undas, Anetta
AU - Neerman-Arbez, Marguerite
AU - HELLMANN, ANDRZEJ
PY - 2012
DA - 2012/09/01
PB - Elsevier
SP - e196-e197
IS - 3
VL - 130
PMID - 22795623
SN - 0049-3848
SN - 1879-2472
ER -
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BibTex (up to 50 authors)
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@article{2012_Mital,
author = {Andrzej Mital and Anetta Undas and Marguerite Neerman-Arbez and ANDRZEJ HELLMANN},
title = {Fibrinogen Gdansk: Hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro)},
journal = {Thrombosis Research},
year = {2012},
volume = {130},
publisher = {Elsevier},
month = {sep},
url = {https://doi.org/10.1016/j.thromres.2012.06.021},
number = {3},
pages = {e196--e197},
doi = {10.1016/j.thromres.2012.06.021}
}
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MLA
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Mital, Andrzej, et al. “Fibrinogen Gdansk: Hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro).” Thrombosis Research, vol. 130, no. 3, Sep. 2012, pp. e196-e197. https://doi.org/10.1016/j.thromres.2012.06.021.