Molecular characterization of CPS1 deletions by array CGH

Por Wang, Jing, Shchelochkov, Oleg A., Zhan, Hongli, Li, Fangyuan, Chen, Li-Chieh, Brundage, Ellen K., Pursley, Amber N., Schmitt, Eric S., Häberle, Johannes, Wong, Lee-Jun C.
Publicado no Mol Genet Metab (2010)

Mitochondrial Myopathy, Lactic Acidosis, and Sideroblastic Anemia (MLASA) Plus Associated with a novel De Novo Mutation (m.8969G>A) in the Mitochondrial Encoded ATP6 gene

Por Burrage, Lindsay C., Tang, Sha, Wang, Jing, Donti, Taraka R., Walkiewicz, Magdalena, Luchak, J. Michael, Chen, Li-Chieh, Schmitt, Eric S., Niu, Zhiyv, Erana, Rodrigo, Hunter, Jill V., Graham, Brett H., Wong, Lee-Jun, Scaglia, Fernando
Publicado no Mol Genet Metab (2014)