The Infective Polymerization of Conformationally Unstable Antithrombin Mutants May Play a Role in the Clinical Severity of Antithrombin Deficiency

Mutations affecting mobile domains of antithrombin induce conformational instability resulting in protein polymerization that associates with a severe clinical phenotype, probably by an unknown gain of function. By homology with other conformational diseases, we speculated that these variants might...

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Hauptverfasser: Martínez-Martínez, Irene, Navarro-Fernández, José, Águila, Sonia, Miñano, Antonia, Bohdan, Nataliya, de la Morena-Barrio, María Eugenia, Ordóñez, Adriana, Martínez, Constantino, Vicente, Vicente, Corral, Javier
Format: Artigo
Sprache:Inglês
Veröffentlicht: ScholarOne 2012
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3409284/
https://ncbi.nlm.nih.gov/pubmed/22481271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2012.00017
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