Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

Antithrombin, a major endogenous anticoagulant, is a serine protease inhibitor (serpin). We characterized the biological and clinical impact of variants involving C-terminal antithrombin. We performed comprehensive molecular, cellular, and clinical characterization of patients with C-terminal antith...

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Detalles Bibliográficos
Autores principales: Bravo-Pérez, Carlos, Toderici, Mara, Chambers, Joseph E., Martínez-Menárguez, José A., Garrido-Rodriguez, Pedro, Pérez-Sanchez, Horacio, de la Morena-Barrio, Belén, Padilla, José, Miñano, Antonia, Cifuentes-Riquelme, Rosa, Vicente, Vicente, Lozano, Maria L., Marciniak, Stefan J., de la Morena-Barrio, Maria Eugenia, Corral, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675572/
https://www.ncbi.nlm.nih.gov/pubmed/36214221
http://dx.doi.org/10.1172/jci.insight.161430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675572/
https://www.ncbi.nlm.nih.gov/pubmed/36214221
http://dx.doi.org/10.1172/jci.insight.161430

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