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Article

Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency.

British journal of haematology - 1 Jun 2002

Peyvandi Flora, Menegatti Marzia, Santagostino Elena, Akhavan Sepideh, Uprichard James, Perry David J, Perkins Stephen J, Mannucci Pier M

Abstract excerpt

Factor X (FX) deficiency is a rare autosomal recessive disorder. The phenotype and genotype of 15 Iranian patients with FX deficiency from 13 unrelated families with a high frequency of consanguinity were analysed. Five different assays identified four patients from three families with a discrepancy between low-FX coagulant activity (FX:C) and higher-FX antigen (FX:Ag) (a type II deficiency). The remaining 11...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 12028042
DOI: 10.1046/j.1365-2141.2002.03486.x

Genes

EGF

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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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