A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms

por Weronska, Anna, Potaczek, Daniel P., Oto, Julia, Medina, Pilar, Undas, Anetta, Wypasek, Ewa
Publicado 2022

Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

por Weronska, Anna, de la Morena-Barrio, Belen, Goldman-Mazur, Sarah, de la Morena-Barrio, Maria Eugenia, Padilla, José, Miñano, Antonia, Garrido-Rodriguez, Pedro, Trelihski, Jacek, Potaczek, Daniel Piotr, Szczepanek, Anita, Undas, Anetta, Corral, Javier, Wypasek, Ewa
Publicado 2023