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

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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Bibliographic Details
Main Authors: Carlos Bravo-Pérez, Mara Toderici, Joseph E. Chambers, José A. Martínez-Menárguez, Pedro Garrido-Rodriguez, Horacio Pérez-Sanchez, Belén de la Morena-Barrio, José Padilla, Antonia Miñano, Rosa Cifuentes-Riquelme, Vicente Vicente, Maria L. Lozano, Stefan J. Marciniak, Maria Eugenia de la Morena-Barrio, Javier Corral
Format: Article
Language:English
Published: American Society for Clinical investigation 2022-10-01
Series:JCI Insight
Subjects:
Genetics
Hematology
Online Access:https://doi.org/10.1172/jci.insight.161430

Internet

https://doi.org/10.1172/jci.insight.161430

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