A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

Autor: Marín‐Quílez, Ana, Vuelta, Elena, Díaz‐Ajenjo, Lorena, Fernández‐Infante, Cristina, García‐Tuñón, Ignacio, Benito, Rocío, Palma‐Barqueros, Verónica, Hernández‐Rivas, Jesús María, González‐Porras, José Ramón, Rivera, José, Bastida, José María *
Zdroj: In Journal of Thrombosis and Haemostasis May 2022 20(5):1248-1255
Databáze: ScienceDirect