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Article

Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.

Haematologica - 1 Mar 2002

Giansily-Blaizot Muriel, Aguilar-Martinez Patricia, Schved Jean-François

Abstract excerpt

Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic diathesis. Given both the rarity and the heterogeneity of this disorder,genotype-phenotype relationships are difficult to clarify. The analysis of three FVII-deficient patients enabled...

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PMID: 11869950

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

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