| Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. | |
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MedLine Citation:
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PMID: 18600100 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Myeloproliferative diseases represent a major risk factor for Budd-Chiari syndrome. In 32 patients with Budd-Chiari syndrome, the JAK2 V617F mutation was detected, in heterozygous state, in 11 individuals (34.4%; 95% confidence interval: 18.6-53.2). Eight patients with (72.7%; 95% confidence interval: 39.0-94.0) and six without (28.6%; 95% confidence interval: 11.3-52.2) the JAK2 V617F mutation had a diagnosis of myeloproliferative diseases before or at the occurrence of the venous thrombotic event. In three patients carrying the JAK2 V617F mutation, a myeloproliferative disease was not detected. Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases. |
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Authors:
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Donatella Colaizzo; Lucio Amitrano; Giovanni L Tiscia; Luigi Iannaccone; Anna Gallone; Elvira Grandone; Maria A Guardascione; Maurizio Margaglione |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis Volume: 19 ISSN: 0957-5235 ISO Abbreviation: Blood Coagul. Fibrinolysis Publication Date: 2008 Jul |
Date Detail:
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Created Date: 2008-07-07 Completed Date: 2009-08-18 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9102551 Medline TA: Blood Coagul Fibrinolysis Country: England |
Other Details:
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Languages: eng Pagination: 459-62 Citation Subset: IM |
Affiliation:
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aAtherosclerosis and Thrombosis, Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Budd-Chiari Syndrome / complications, enzymology, genetics* Female Follow-Up Studies Humans Janus Kinase 2 / genetics*, metabolism Male Middle Aged Mutation, Missense* Myeloproliferative Disorders / enzymology, etiology, genetics* Risk Factors |
| Chemical | |
Reg. No./Substance:
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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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