Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
由于 GON7 和 YRDC 突变导致 t6A tRNA 修饰缺陷,从而导致 Galloway-Mowat 综合征
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-019-11951-x
Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida