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Article

Clinical phenotypes and factor VII genotype in congenital factor VII deficiency.

Thrombosis and haemostasis - 1 Mar 2005

Mariani Guglielmo, Herrmann Falko H, Dolce Alberto, Batorova Angelika, Etro Daniela, Peyvandi Flora, Wulff Karin, Schved Jean F, Auerswald Günter, Ingerslev Jorgen, Bernardi Francesco

Abstract excerpt

To investigate the relationship between clinical phenotype, clotting activity (FVIIc) and FVII genotype, a multi-center study of factor VII (FVII) congenital deficiency with centralized genotyping and specific functional assays was carried out. FVII mutations characterized in patients (n=313) were extremely heterogeneous (103 different, 22 novel). Clinical phenotypes ranged from asymptomatic condition, including...

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PMID: 15735798
DOI: 10.1160/TH04-10-0650

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