A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
NDUFB11 的新突变揭示了与乳酸性酸中毒和铁粒幼细胞贫血相关的新临床表型
期刊:Clinical Genetics
影响因子:2.9
doi:10.1111/cge.12790
A Torraco, M Bianchi, D Verrigni, V Gelmetti, L Riley, M Niceta, D Martinelli, A Montanari, Y Guo, T Rizza, D Diodato, M Di Nottia, B Lucarelli, F Sorrentino, F Piemonte, S Francisci, M Tartaglia, E M Valente, C Dionisi-Vici, J Christodoulou, E Bertini, R Carrozzo
