Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
KARS 的新突变导致肥厚性心肌病和线粒体呼吸链缺陷
期刊:Clinical Genetics
影响因子:2.9
doi:10.1111/cge.12931
D Verrigni, D Diodato, M Di Nottia, A Torraco, E Bellacchio, T Rizza, G Tozzi, M Verardo, F Piemonte, G Tasca, A D'Amico, E Bertini, R Carrozzo