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Thrombocythemia 3

Thrombocythemia 3 is an autosomal dominant disorder caused by Mutations of the JAK2 gene which is characterized by elevated platelet counts.

Systematic

Inheritable platelet disorders
Alloimmune thrombocytopenia
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Bernard-Soulier syndrome
Bleeding disorder platelet-type 9
Glycoprotein 1a deficiency
IVIC syndrome
MYH9 related disorders
Mediterranean macrothrombocytopenia
Thrombasthenia of Glanzmann and Naegeli
Thrombocythemia 3
JAK2
Wiskott–Aldrich syndrome

References:

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 external link
Update: Aug. 14, 2020
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