| Introns 1 and 22 inversions and factor VIII inhibitors in patients with severe haemophilia A in southern Brazil. | |
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MedLine Citation:
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PMID: 18759747 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A total of 107 unrelated severe haemophilia A patients living in the southern Brazilian state of Rio Grande do Sul were studied in relation to the prevalence of inversions present in introns 22 and 1 and a subsample of them (95) tested for the presence of Factor VIII inhibitors. These data were then incorporated with those from 15 other countries and 3871 patients. The frequencies of these two inversions show a remarkable homogeneity in series collected in different continents, from people with diverse ethnic extraction. The prevalence of inhibitors among patients with inversion 22, on the other hand, varies widely (5-51%; seven countries, 1482 patients), the value observed by us being the highest. The importance of obtaining data from patients throughout the world to clarify the aetiology of this important complicating factor in the therapeutics of the disease is emphasized. |
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Authors:
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L B Leiria; I Roisenberg; F M Salzano; E Bandinelli |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2008-08-27 |
Journal Detail:
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Title: Haemophilia : the official journal of the World Federation of Hemophilia Volume: 15 ISSN: 1365-2516 ISO Abbreviation: Haemophilia Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-01-19 Completed Date: 2009-08-04 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9442916 Medline TA: Haemophilia Country: England |
Other Details:
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Languages: eng Pagination: 309-13 Citation Subset: IM |
Affiliation:
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Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Chromosome Inversion* Factor VIII / immunology* Hemophilia A / genetics*, immunology Humans Introns / genetics Isoantibodies / blood* Male Middle Aged Polymerase Chain Reaction / methods Risk Factors Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Isoantibodies; 9001-27-8/Factor VIII |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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