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Article

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Haematologica - 1 Oct 2008

Dall'Osso Claudia, Guella Ilaria, Duga Stefano, Locatelli Nadia, Paraboschi Elvezia Maria, Spreafico Marta, Afrasiabi Abdolreza, Pechlaner Christoph, Peyvandi Flora, Tenchini Maria Luisa, Asselta Rosanna

Abstract excerpt

BACKGROUND: Factor V deficiency is a rare autosomal recessive hemorrhagic disorder, associated with bleeding manifestations of variable severity. In the present study, we investigated the molecular basis of factor V deficiency in three patients, and performed a comprehensive analysis of the facto...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18728029
DOI: 10.3324/haematol.12934

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18728029-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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