| JAK2V617F and prothrombin G20210A gene mutations in a patient with Budd-Chiari syndrome and essential thrombocythemia. | |
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MedLine Citation:
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PMID: 19223280 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Myeloproliferative disorders and the inherited thrombophilias have been described as the main causes underlying the Budd-Chiari syndrome. Moreover, the presence of the JAK2V617F was associated with a higher frequency of Budd-Chiari syndrome in patients who have overt or even latent myeloproliferative disorder. We herein describe a 28-year-old woman who was diagnosed with Budd-Chiari syndrome and later developed an overt myeloproliferative disorder. The patient was found to carry both the JAK2V617F and the prothrombin G20210A mutation in the heterozygous form. The significance of the chronology of diagnosis is highlighted. |
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Authors:
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Khaled M Musallam; Elie G Aoun; Rami A Mahfouz; Mohamad Khalife; Ali T Taher |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-02-16 |
Journal Detail:
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Title: Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis Volume: 16 ISSN: 1938-2723 ISO Abbreviation: Clin. Appl. Thromb. Hemost. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-21 Completed Date: 2010-11-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508125 Medline TA: Clin Appl Thromb Hemost Country: United States |
Other Details:
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Languages: eng Pagination: 472-4 Citation Subset: IM |
Affiliation:
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Department of Internal Medicine, Division of Hematology and Oncology, American University of Beirut Medical Center, Beirut, Lebanon. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Budd-Chiari Syndrome / blood, enzymology, genetics* Female Humans Janus Kinase 2 / genetics* Mutation* Prothrombin / genetics* Thrombocythemia, Essential / enzymology, genetics* |
| Chemical | |
Reg. No./Substance:
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9001-26-7/Prothrombin; EC 2.7.1.112/JAK2 protein, human; EC 2.7.10.1/Janus Kinase 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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