Sasarman, Florin

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. [electronic resource] - Human mutation Aug 2012 - 1201-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.22098 doi


Acidosis, Lactic--genetics
Adult
Anemia, Sideroblastic--genetics
Cells, Cultured
Humans
Mitochondrial Proteins--genetics
Muscular Diseases--genetics
Mutation
Myoblasts--metabolism
Tyrosine-tRNA Ligase--genetics
tRNA Methyltransferases--genetics