Sökning: "STXBP2"

Hittade 2 avhandlingar innehållade ordet STXBP2.

1. 1. Genetic Screening in Patients Suspected of Inherited Bleeding Disorders

   Författare :Marcus Fager Ferrari; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bleeding; Inherited Bleeding Disorders; Platelet Dysfunction; Thrombocytopenia; Genetic Screening; High-Throughput Sequencing; STX11; STXBP2; UNC13D; FGB; COL1A1; COL3A1; COL5A1; COL5A2; GNE; Sialic Acid; Oseltamivir;

   Sammanfattning : 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. LÄS MER

3. 2. Genetic, cellular and clinical studies of hemophagocytic lymphohistiocytosis

   Författare :Marie Meeths; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER