Mitochondrial Myopathy and Sideroblastic Anemia (MLASA): MISSENSE MUTATION IN THE PSEUDOURIDINE SYNTHASE 1 (PUS1) GENE IS ASSOCIATED WITH THE LOSS OF tRNA PSEUDOURIDYLATION

Autor: Patton, Jeffrey R. , Bykhovskaya, Yelena §, Mengesha, Emebet §, Bertolotto, Cristina §, Fischel-Ghodsian, Nathan §, ¶
Zdroj: In Journal of Biological Chemistry 20 May 2005 280(20):19823-19828
Databáze: ScienceDirect