Fernandez-Vizarra, E., Berardinelli, A., Valente, L., Tiranti, V., & Zeviani, M. (2009). Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). BMJ Publishing Group.

Fernandez-Vizarra, Erika, Angela Berardinelli, Lucia Valente, Valeria Tiranti, and Massimo Zeviani. Nonsense Mutation in Pseudouridylate Synthase 1 (PUS1) in Two Brothers Affected By Myopathy, Lactic Acidosis and Sideroblastic Anaemia (MLASA). BMJ Publishing Group, 2009.

Fernandez-Vizarra, Erika, et al. Nonsense Mutation in Pseudouridylate Synthase 1 (PUS1) in Two Brothers Affected By Myopathy, Lactic Acidosis and Sideroblastic Anaemia (MLASA). BMJ Publishing Group, 2009.