| Rare deletion from the fibrinogen Bβ gene in a patient with a provoked venous thrombotic event. | |
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MedLine Citation:
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PMID: 21959590 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Hypodysfibrinogenemia is characterized by both a qualitative and quantitative deficiency of fibrinogen. Here we report a patient with remote history of bleeding and presents with provoked deep venous thrombosis associated with hypodysfibrinogenemia. Molecular studies identified the presence of fibrinogen Epsom, which was previously reported in a family with pregnancy associated bleeding. This case illustrates the difficulty in linking the genotype and phenotype in patients with defective fibrinogen. |
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Authors:
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Yu-Min Shen; Ravi Sarode; Anil Bhogaraju; Stephen Brennan |
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: 22 ISSN: 1473-5733 ISO Abbreviation: Blood Coagul. Fibrinolysis Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-09-30 Completed Date: - Revised Date: - |
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: 613-5 Citation Subset: IM |
Affiliation:
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aDivision of Hematology/Oncology, Department of Internal Medicine bDepartment of Pathology, The University of Texas Southwestern Medical Center at Dallas cTexas Oncology, Lewisville, Texas, USA dMolecular Pathology Laboratory, University of Otago, Christchurch, New Zealand. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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