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Article

Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder.

Thrombosis and haemostasis - 1 Dec 1994

Poort S R, Michiels J J, Reitsma P H, Bertina R M

Abstract excerpt

A patient with a severe bleeding tendency and hypoprothrombinemia (Factor II activity 2%, Factor II antigen 5%) was screened for the presence of alterations in his prothrombin gene. Direct sequencing of PCR fragments derived from the coding and flanking regions of the prothrombin gene, revealed that the patient was homozygous for an A-->G substitution in exon 3. This substitution predicts the replacement of Tyr44...

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PMID: 7740448

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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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