Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency
PNPT1基因编码一种多核糖核苷酸核苷酸转移酶,该基因突变会损害RNA输入线粒体,导致呼吸链功能障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.09.001
Vedrenne, Vanessa; Gowher, Ali; De Lonlay, Pascale; Nitschke, Patrick; Serre, Valérie; Boddaert, Nathalie; Altuzarra, Cecilia; Mager-Heckel, Anne-Marie; Chretien, Florence; Entelis, Nina; Munnich, Arnold; Tarassov, Ivan; Rötig, Agnès