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Rare deletion from the fibrinogen Bβ gene in a patient with a provoked venous thrombotic event.
MedLine Citation:
PMID:  21959590     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Yu-Min Shen; Ravi Sarode; Anil Bhogaraju; Stephen Brennan
Publication Detail:
Type:  Journal Article    
Journal Detail:
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:
Created Date:  2011-09-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102551     Medline TA:  Blood Coagul Fibrinolysis     Country:  England    
Other Details:
Languages:  eng     Pagination:  613-5     Citation Subset:  IM    
Affiliation:
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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