Document Detail


Worldwide diffusion of FVII Arg304Gln coagulation defect (FVII Padua).
MedLine Citation:
PMID:  20958793     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
FVII Padua is a Type 2 defect owing to an Arg304Gln substitution in exon 8. The defect was originally discovered in an isolated valley in northeastern Italy. Subsequently, it was described in several other countries of the Mediterranean basin and Middle East. Recently, several proven or suspected cases have been described among Afro-Americans in the USA. This study has demonstrated the existence of at least a two-founder effect for this FVII abnormality, Mediterranean countries, and USA Afro-Americans. Patients are usually asymptomatic or only paucisymptomatic. The defect is characterized by low FVII activity when rabbit brain thromboplastins are used in the assay system. On the contrary, FVII levels are normal when ox-brain thromboplastins are used. FVII antigen is always normal.
Authors:
Antonio Girolami; Giulia Berti de Marinis; Emanuela Bonamigo; Emanuele Allemand
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-12-29
Journal Detail:
Title:  European journal of haematology     Volume:  86     ISSN:  1600-0609     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  135-9     Citation Subset:  IM    
Copyright Information:
© 2010 John Wiley & Sons A/S.
Affiliation:
Department of Medical and Surgical Sciences, University of Padua, Via Ospedale 105, Padua, Italy. antonio.girolami@unipd.it
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