Journal article

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

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, EM Valente, C Dionisi-Vici, J Christodoulou Show all

Clinical Genetics | WILEY | Published : 2017


Awarded by Telethon Grant

Awarded by Italian Ministry of Health

Awarded by Australian NHMRC

Funding Acknowledgements

This work received financial support from the Telethon Grant GGP11011, the Italian Ministry of Health (GR2010-2316392), and the Italian Association of Mitochondrial Disease Patients and Families (Mitocon). This research was also supported by Australian NHMRC grant 1026891 to J. C., and we also gratefully acknowledge donations to J. C. by the Crane and Perkins families.