Thrombocythemia 3 is an autosomal dominant disorder caused by Mutations of the JAK2 gene which is characterized by elevated platelet counts.
|Inheritable platelet disorders|
|Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia|
|Bleeding disorder platelet-type 9|
|Glycoprotein 1a deficiency|
|MYH9 related disorders|
|Thrombasthenia of Glanzmann and Naegeli|
Baxter EJ et al. () Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
Kralovics R et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders.
Mead AJ et al. (2012) Germline JAK2 mutation in a family with hereditary thrombocytosis.
Singal U et al. (1983) Essential thrombocythemia: a clonal disorder of hematopoietic stem cell.
Gaetani GF et al. (1982) Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject.
Fialkow PJ et al. (1981) Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell.
Lata K et al. (2010) JAK2 mutations and coronary ischemia.
OMIM.ORG articleOmim 614521