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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...

Topics

Animals
Factor V
Factor V Deficiency
Factor VIII
Hemophilia A
Humans
Mannose-Binding Lectins
Membrane Proteins
Mutation
Protein Binding
Protein Transport
Vesicular Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

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

Genes

LMAN1
MCFD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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