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Article

Of four mutations in the factor VII gene in Tunisian patients, one novel mutation (Ser339Phe) in three unrelated families abrogates factor X activation.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 2005

Fromovich-Amit Yonit, Zivelin Ariella, Rosenberg Nurit, Landau Meytal, Rosa Jean-Philippe, Seligsohn Uri

Abstract excerpt

Hereditary factor VII (FVII) deficiency is a rare bleeding disorder. Dysfunctional FVII variants characterized by normal or reduced levels of FVII antigen and discordantly low FVII activity have been described. In this study, seven unrelated Tunisian patients with FVII deficiency were examined. Molecular analysis revealed that three probands harbored a novel Ser339Phe mutation, one proband was inferred to have a...

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PMID: 15970722
DOI: 10.1097/01.mbc.0000172696.62363.8c

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

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