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Article

Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding.

Thrombosis and haemostasis - 1 Dec 2021

Andersen Elisabeth, Chollet Maria Eugenia, Sletten Marit, Stavik Benedicte, Skarpen Ellen, Backe Paul Hoff, Thiede Bernd, Glosli Heidi, Henriksson Carola Elisabeth, Iversen Nina

Abstract excerpt

Clinical parameters have been extensively studied in factor (F) VII deficiency, but the knowledge of molecular mechanisms of this disease is scarce. We report on three probands with intracranial bleeds at an early age, one of which had concomitant high titer of FVII inhibitor. The aim of the present study was to identify the causative mutations and to elucidate the underlying molecular mechanisms. All nine F7...

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PMID: 33742435
DOI: 10.1055/a-1450-8568

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