Article
Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.
Thrombosis and haemostasis - 1 Nov 2010
Vorjohann Silja, Fish Richard J, Biron-Andréani Christine, Nagaswami Chandrasekaran, Weisel John W, Boulot Pierre, Reyftmann Lionel, de Moerloose Philippe, Neerman-Arbez Marguerite
Abstract excerpt
Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia) or both (hypodysfibrinogenaemia). Extensive allelic heterogeneity has been found for all these disorders: in congenital afibrinogenaemia for example more than 40 mutations, the majority in FGA , have been identified in homozygosity...
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