Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Autor: Peter Hickey, Joëlle Rudinger-Thirion, Richard Giegé, Alison G. Compton, Sandra T. Cooper, Lisa G. Riley, Matthew McKenzie, David R. Thorburn, Michael T. Ryan, Melanie Bahlo, Sze Chern Lim, John Christodoulou

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 87 (1), pp.52-9. ⟨10.1016/j.ajhg.2010.06.001⟩
The American Journal of Human Genetics

International audience; Mitochondrial respiratory chain disorders are a heterogeneous group of disorders in which the underlying genetic defect is often unknown. We have identified a pathogenic mutation (c.156C>G [p.F52L]) in YARS2, located at chromo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317a9906f8ed7d1af14a259dea4d7ebb
https://doi.org/10.1016/j.ajhg.2010.06.001