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Article

Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2011

Elmahmoudi H, Wigren E, Laatiri A, Jlizi A, Elgaaied A, Gouider E, Lindqvist Y

Abstract excerpt

Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is a rare autosomal recessive disorder characterized by mild-to-moderate bleeding and reduction in FV and FVIII levels in plasma. F5F8D is caused by mutations in one of two different genes, LMAN1 and MCFD2, which encode proteins that form a complex involved in the transport of FV and FVIII from the endoplasmic reticulum to the Golgi...

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Source

Identifiers

PMID: 21492322
DOI: 10.1111/j.1365-2516.2011.02529.x

Genes

MCFD2
LMAN1

Provenance

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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Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.PMID 21492322Read ↗

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