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Clinical phenotypes and factor VII genotype in congenital factor VII deficiency

Thrombosis and Haemostasis, 2005
SummaryTo 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)
Flora Peyvandi   +2 more
exaly   +6 more sources

Congenital factor VII deficiency

The Indian Journal of Pediatrics, 2004
A 1(1/2)-month-old baby with seizures, lethargy and refusal of feeds was diagnosed to have intracranial hemorrhage due to factor VII deficiency. MRI also demonstrated the unusual presence of a hemorrhagic infarct. The case underscores the importance of carrying out neuroimaging and appropriate hematological studies even in the absence of obvious ...
Jagruti P, Sanghvi   +3 more
openaire   +2 more sources

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