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Article

Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2009

Delev D, Pavlova A, Heinz S, Seifried E, Oldenburg J

Abstract excerpt

Coagulation factor V (FV) plays an important role in the blood coagulation cascade as part of the prothrombinase complex. FV deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression. Thus, our study reports 39 patients with FV deficiency. In 36 cases, we were able to identify a causative mutation. Of these, 20 patients were heterozygous for the identified mutation, nine were...

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Identifiers

PMID: 19486170
DOI: 10.1111/j.1365-2516.2009.02048.x

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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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