We identified a novel mechanism of hereditary thrombosis associated with antithrombin resistance, with a substitution of arginine for leucine at position 596 (p.Arg596Leu) in the gene encoding ...
The practice of medical genetics has evolved from focusing on rare, single-gene disorders to including more prevalent, multigenic disorders. The geneticist may be called upon to participate in the ...
The Case: A previously healthy 24-year-old man presented to the emergency department with sudden onset of severe periumbilical and right costovertebral pain accompanied by nausea and vomiting. His ...
INNOVANCE Antithrombin assay is a cutting-edge, ready-to-use chromogenic reagent for the automated determination of antithrombin (AT) activity. It is highly accurate even at low activity levels and ...
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