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Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.

Blood cells, molecules & diseases - 1 Jan 2000

Abdallah Hejer Elmahmoudi, Gouider Emna, Stambouli Nejla, Ben Amor Mohamed, Jlizi Asma, Belhedi Nejla, Sassi Rim, Khodjetelkhil Houssein, Meddeb Balkis, Hafsia Raouf, Hamza Adel, Elgaaied Amel Benammar

Abstract excerpt

No abstract is available from the source.

Topics

Blood Coagulation Disorders, Inherited
Child, Preschool
Factor V
Factor V Deficiency
Factor VIII
Humans
Male
Molecular Dynamics Simulation
Mutation
Nuclear Magnetic Resonance, Biomolecular
Protein Conformation
Vesicular Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 20004600
DOI: 10.1016/j.bcmd.2009.11.004

Genes

MCFD2

Provenance

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

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Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency.PMID 20004600Read ↗

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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 ↗

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