Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative.
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DOI: 10.1016/j.thromres.2020.08.031
Abstract: INTRODUCTION Congenital fibrinogen disorders result from genetic mutations in FGA, FGB, or FGG resulting in quantitative fibrinogen deficiencies (afibrinogenemia or hypofibrinogenemia) or qualitative fibrinogen deficiencies (dysfibrinogenemia). Hypodysfibrinogenemia sharing features with hypo- and dysfibrinogenemia is rare.… read more here.
Keywords: congenital fibrinogen; fibrinogen; plasma fibrinogen; n170k fibrinogen ... See more keywords