Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Thrombocythemia 3 is an autosomal dominant disorder caused by Mutations of the JAK2 gene which is characterized by elevated platelet counts.
| 1. |
Baxter EJ et al. () Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 
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| 2. |
Kralovics R et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders.
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| 3. |
Mead AJ et al. (2012) Germline JAK2 mutation in a family with hereditary thrombocytosis.
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| 4. |
Singal U et al. (1983) Essential thrombocythemia: a clonal disorder of hematopoietic stem cell.
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| 5. |
Gaetani GF et al. (1982) Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject.
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| 6. |
Fialkow PJ et al. (1981) Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell.
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| 7. |
Lata K et al. (2010) JAK2 mutations and coronary ischemia.
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| 8. |
OMIM.ORG article Omim 614521
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