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Article

Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G).

European journal of haematology - 1 Oct 2007

Pruthi Rajiv K, Rodriguez Vilmarie, Allen Cory, Slaby Jeffrey A, Schmidt Kirstin A, Plumhoff Elizabeth A

Abstract excerpt

Congenital factor VII (FVII) deficiency is an autosomal recessive bleeding disorder with variable phenotypic correlation between FVII activity and bleeding risk. We report a novel mutation of the FVII gene that creates the amino acid change Ser 103 to Gly, which resulted in severe FVII deficiency with reduced FVII antigen. This mutation in the heterozygous form was also present in a mildly affected, unrelated...

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Source

Identifiers

PMID: 17692102
DOI: 10.1111/j.1600-0609.2007.00916.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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