FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations

Casini, Alessandro; Lukowski, Samuel; Quintard, V Louvain; Crutu, A; Zak, M; Regazzoni, S; De Moerloose, Philippe; Neerman Arbez, Marguerite

doi:10.1016/j.thromres.2014.01.022

Scientific article

English

FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations

ContributorsCasini, Alessandro

; Lukowski, Samuel; Quintard, V Louvain; Crutu, A; Zak, M; Regazzoni, S; De Moerloose, Philippe; Neerman Arbez, Marguerite

Published inThrombosis research, vol. 133, no. 5, p. 868-874

Publication date2014

Abstract

Causative mutations leading to congenital quantitative fibrinogen are frequently clustered in FGA encoding the fibrinogen Aα-chain. Mutations of FGB encoding the Bβ-chain are less common and of interest since the Bβ-chain is considered the rate-limiting factor in the hepatic production of the fibrinogen hexamer.

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Citation (ISO format)

CASINI, Alessandro et al. FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations. In: Thrombosis research, 2014, vol. 133, n° 5, p. 868–874. doi: 10.1016/j.thromres.2014.01.022

Article (Published version)

Identifiers

PID : unige:39382
DOI : 10.1016/j.thromres.2014.01.022
PMID : 24560896

Journal ISSN0049-3848

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FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations

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