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Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln.

Acta haematologica - 1 Jan 2021

Girolami Antonio, Paoletti Mariano, Ferrari Silvia, Garcia Diana

Abstract excerpt

OBJECTIVE: To investigate a family with factor VII (FVII) deficiency from Argentina. PATIENTS AND METHODS: The proposita is a 14-year-old girl who presented with a mild to moderate bleeding tendency. Menorrhagia is controlled with periodical administration of small doses of recombinant FVII concentrate. The mother of the proposita has a similar bleeding tendency. RESULTS: FVII activity in both patients was 20% of...

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PMID: 32396910
DOI: 10.1159/000507071

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