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Article

Combined Factor V and Factor VIII Deficiency.

Seminars in thrombosis and hemostasis - 1 Jun 2009

Spreafico Marta, Peyvandi Flora

Abstract excerpt

Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC-53), that is, lectin mannose binding protein ( LMAN1) and multiple coagulation factor deficiency 2 ( MCFD2), involved in the FV and FVIII intracellular transport...

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Source

Identifiers

PMID: 19598067
DOI: 10.1055/s-0029-1225761

Genes

LMAN1
MCFD2

Provenance

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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