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Article

Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype.

Blood - 1 Oct 2002

Yamazaki Tomio, Nicolaes Gerry A F, Sørensen Kristoffer W, Dahlbäck Björn

Abstract excerpt

To investigate the molecular mechanisms of the quantitative factor V (FV) deficiency associated with the FV R2 haplotype, 4 missense mutations, Met385Thr, His1299Arg, Met1736Val, and Asp2194Gly, identified in the R2 haplotype allele, were analyzed by in vitro expression studies. The FV variant carrying all 4 mutations showed a markedly lower steady-state expression level than wild-type FV because of low synthesis...

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Source

Identifiers

PMID: 12239164
DOI: 10.1182/blood.V100.7.2515

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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