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Article

Homozygous factor V splice site mutation associated with severe factor V deficiency.

Blood - 15 Apr 2002

Schrijver Iris, Koerper Marion A, Jones Carol D, Zehnder James L

Abstract excerpt

We investigated a family whose proband has a severe bleeding disorder and factor V antigenic and functional levels of 8% and less than 1% of control values, respectively. Molecular analysis of the factor V gene revealed a novel homozygous mutation in the last nucleotide of exon 10. 1701G>T causes...

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Identifiers

PMID: 11929802
DOI: 10.1182/blood.v99.8.3063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11929802-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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