Article
Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2015
Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D'Antiga L, Perisic V N, Maggiore G, Caccia S, Duga S
Abstract excerpt
BACKGROUND: Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congenital disorders characterized by low/unmeasurable plasma fibrinogen antigen levels. Their genetic basis is invariably represented by mutations within the fibrinogen genes (FGA, FGB and FGG coding for the Aα, Bβ and γ chains). Currently, only four mutations (p.Gly284Arg, p.Arg375Trp, delGVYYQ 346-350,...
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