Rps19R67∆ mutation creates a model of Diamond–Blackfan anemia and reveals downstream mediators of p53 pathway

Abstract Diamond–Blackfan anemia (DBA) is a rare bone marrow failure syndrome accompanied by cardiovascular, skeletal, and urogenital abnormalities. Most of the affected individuals carry mutations in ribosomal proteins, including RPS19, a component of the 40S ribosomal subunit. We developed a trans...

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Autors principals:	Juraj Kokavec, Tereza Turková, Björn Schuster, Jan Prochazka, František Spoutil, Kristína Jamrichová, Markéta Holečková, Karel Chalupský, Inken M. Beck, Jesús Ruberte, Matilde Vale, Lukáš Čermák, Tomáš Stopka, Radislav Sedlacek
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2026-01-01
Col·lecció:	HemaSphere
Accés en línia:	https://doi.org/10.1002/hem3.70302
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