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Breaking News: Trump administration impacts continue to roil the life sciences sectorSee today's BioWorld Science
Home » Novel heterozygous missense mutation in the FGG gene linked to hypodysfibrinogenemia
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Biomarkers

Novel heterozygous missense mutation in the FGG gene linked to hypodysfibrinogenemia

Feb. 12, 2024
The rare hereditary fibrinogen disorder hypodysfibrinogenemia is characterized by fibrinogen defects, which can cause thrombotic and hemorrhagic phenotypes that are not always predicted by routine coagulation tests. Researchers from Academic Hospital Maastricht aimed to characterize the genetic profile of a family with hypodysfibrinogenemia and predict bleeding and/or thrombotic phenotypes in asymptomatic family members using innovative testing.
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