Article
A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences.
Hamostaseologie - 8 Nov 2016
Ivaškevičius V, Rühl H, Detarsio G, Biswas A, Gupta S, Davoli M, Quartara A, Pérez S, Raviola M, Oldenburg J
Abstract excerpt
Afibrinogenemia represents the rarest form of fibrinogen deficiency. Causative missense mutations occur rarely and may improve the understanding of fibrinogen structure and function. PATIENTS AND METHODS: The propositus was a 26-year-old Argentinian with afibrinogenemia. FGA, FGB and FGG exons and flanking regions were screened by sequencing and the mutant protein was analyzed in silico. RESULTS: A novel missense...
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