Work

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

Year: 2010

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2010.06.001

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

Institutions: Children's Hospital at Westmead, The University of Sydney, Walter and Eliza Hall Institute of Medical Research, Centre National de la Recherche Scientifique, Architecture et Réactivité de l'arN, Institut de Biologie Moléculaire et Cellulaire, Université de Strasbourg, La Trobe University, Royal Children's Hospital, Murdoch Children's Research Institute, The University of Melbourne

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: March of Dimes Foundation, Medical Research Council, National Health and Medical Research Council

OpenAlex ID: W1995152144

FWCI: 7.752

Cites: 33

Cited by: 253

Related to: 10