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Article

Combined deficiency of coagulation factors V and VIII: an update.

Seminars in thrombosis and hemostasis - 1 Sept 2013

Zheng Chunlei, Zhang Bin

Abstract excerpt

Combined deficiency of factor V (FV) and FVIII (F5F8D) is an autosomal recessive bleeding disorder characterized by simultaneous decreases of both coagulation factors. This review summarizes recent reports on the clinical presentations, treatments, and molecular mechanism of F5F8D. Genetic studies identified LMAN1 and MCFD2 as causative genes for this disorder, revealing a previously unknown intracellular...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23852824
DOI: 10.1055/s-0033-1349223
PMCID: PMC4446966

Genes

LMAN1
MCFD2

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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Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.Semantic proximity Read ↗

Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of factor V and factor VIIISemantic proximity Read ↗

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