In Vitro Secretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models

ABSTRACT Coagulation factor XIII (FXIII) proenzyme circulates in plasma as a heterotetramer composed of two each of A and B subunits. Upon activation, the B subunits dissociate from the A subunit dimer, which gains transglutaminase activity to cross‐link preformed fibrin clots increasing mechanical...

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Veröffentlicht in:	Human mutation 2013-11, Vol.34 (11), p.1490-1500
Hauptverfasser:	Biswas, Arijit, Thomas, Anne, Bevans, Carville G., Ivaskevicius, Vytautas, Oldenburg, Johannes
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell Line Coagulation expression analysis F13B Factor XIII - chemistry Factor XIII - genetics Factor XIII - metabolism factor XIII deficiency FXIIIB Gene Expression Heterozygote homology modeling Humans Models, Molecular Mutation Mutation, Missense Phenotype Protein Conformation Protein Interaction Domains and Motifs
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