familial hypodysfibrinogenemiaResearch
A novel missense variant in the gamma chain of fibrinogen has been identified, causing hypodysfibrinogenemia in an asymptomatic Danish family. This discovery adds to the understanding of genetic variations affecting fibrinogen function.
novel missense variant c 1172a t p asn391ile in the gamma chain of fibrinogen causing hypodysfibrinogenemia in an asymptomatic danish family and review of adjacent variants
Original title: “A novel missense variant (c.1172A>T, p.Asn391Ile) in the gamma chain of fibrinogen causing hypodysfibrinogenemia in an asymptomatic Danish family and review of adjacent variants.”