A novel fibrinogen mutation: FGA g. 3057 C > T (p. Arg104 > Cys) impairs fibrinogen secretion.
Rita MarchiM LinaresH RojasA Ruiz-SáezM MeyerA CasiniS O BrennanPublished in: BMC hematology (2017)
The low expression of the Aα Arg104 > Cys chain in circulation could account for the observed hypodysfibrinogenemia.