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Article

Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site.

Thrombosis and haemostasis - 1 Aug 2012

Giansily-Blaizot Muriel, Lopez Estelle, Viart Victoria, Chafa Ouerdia, Tapon-Bretaudière Jacqueline, Claustres Mireille, Taulan Magali

Abstract excerpt

Hereditary factor VII (FVII) deficiency is a rare autosomal recessive disorder. Deleterious mutations that prevent the synthesis of any amount of functional FVII have been associated with life-threatening haemorrhage in neonates. Here we report two infants, of Maghrebian origin, who suffered a fatal spontaneous cerebral haemorrhage. Investigation of the molecular basis for their severe FVII deficiency revealed...

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PMID: 22628013
DOI: 10.1160/TH11-09-0638

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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