Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Jci Insight
Bravo-Pérez, Carlos C; Toderici, Mara M; Chambers, Joseph E JE; Martínez-Menárguez, José A JA; Garrido-Rodriguez, Pedro P; Pérez-Sanchez, Horacio H; de la Morena-Barrio, Belén B; Padilla, José J; Miñano, Antonia A; Cifuentes-Riquelme, Rosa R; Vicente, Vicente V; Lozano, Maria L ML; Marciniak, Stefan J SJ; de la Morena-Barrio, Maria Eugenia ME; Corral, Javier J
Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.
Frontiers In Cardiovascular Medicine
Bereczky, Zsuzsanna Z; Gindele, Réka R; Fiatal, Szilvia S; Speker, Marianna M; Miklós, Tünde T; Balogh, László L; Mezei, Zoltán Z; Szabó, Zsuzsanna Z; Ádány, Róza R