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Article

Two novel mutations in the prothrombin gene cause severe bleeding in a compound heterozygous patient.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Nov 1998

Poort S R, Njo K T, Vos H L, Bertina R M

Abstract excerpt

Hypoprothrombinemia is a rare hereditary coagulation defect characterized by low levels of biologically active prothrombin. In this paper we report the laboratory and genetic analysis of a patient with a severe hypoprothrombinemia and some of her relatives. Laboratory analysis showed very low levels of prothrombin antigen. Molecular analysis of the prothrombin genes of the patient resulted in the identification...

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Identifiers

PMID: 9890721
DOI: 10.1097/00001721-199811000-00007

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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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