Search for dissertations about: "STXBP2"
Found 2 swedish dissertations containing the word STXBP2.
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1. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders
Abstract : Inherited bleeding disorders constitute a heterogeneous group of genetic diseases, affecting virtually all major components of the hemostatic system. The diagnostics are potentially complex, and a high proportion of patients remain without a conclusive diagnosis following work-up. READ MORE
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2. Genetic, cellular and clinical studies of hemophagocytic lymphohistiocytosis
Abstract : Hemophagocytic lymphohistocytosis (HLH) is a life-threatening hyperinflammatory condition characterized by fever, cytopenia, hepatosplenomegaly, and sometimes hemophagocytosis. HLH is typically divided into two distinct groups, primary HLH and secondary HLH. READ MORE