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Title

Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia

Authors
Vilar, Rui
Aslan, D
Devreese, K
Mondelaers, V
Alberio, L
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Published in Haemophilia. 2017, vol. 23, no. 4, p. 583-589
Abstract Congenital hypofibrinogenaemia is a quantitative fibrinogen disorder characterized by proportionally decreased levels of functional and antigenic fibrinogen. Mutations accounting for quantitative fibrinogen disorders are relatively frequent in the conserved COOH-terminal globular domains of the γ and Bβ chains. The latter mutations are of particular interest since the Bβ-chain is considered the rate-limiting chain in the hepatic production of the fibrinogen hexamer.
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PMID: 28306188
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Structures
Research groups Recherche translationnelle : anomalies de l'hémostase et thromboses (504)
Geneva Platelet Group (13)
Leucémie et transplantation allogénique de cellules souches hématopoïétiques (982)
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CASINI, Alessandro et al. Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia. In: Haemophilia, 2017, vol. 23, n° 4, p. 583-589. doi: 10.1111/hae.13190 https://archive-ouverte.unige.ch/unige:99478

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Deposited on : 2017-11-22

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