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Article

Prothrombin Padua I: incomplete activation due to an amino acid substitution at a factor Xa cleavage site.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 1994

James H L, Kim D J, Zheng D Q, Girolami A

Abstract excerpt

An individual and an affected brother previously identified as having the variant prothrombin Padua I were studied in order to identify underlying genetic defects. A heterozygous mutation in the prothrombin gene exon 8 was identified as substitution of A for G at nucleotide position 7,312 (Arg271 (CGT) to His (CAT)). An abolished RsaI restriction site was used to confirm heterozygosity for the defect. Lack of the...

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Source

Identifiers

PMID: 7865694
DOI: 10.1097/00001721-199410000-00025

Genes

CAT

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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.

Related research

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Prothrombin Padua I: incomplete activation due to an amino acid substitution at a factor Xa cleavage site.PMID 7865694Read ↗

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