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Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia - MLASA syndrome

Riley, LG, Cooper, S, Hickey, P, Rudinger-Thirion, J, McKenzie, Matthew, Compton, A, Lim, SC, Thorburn, D, Ryan, MT, Giegé, R, Bahlo, M and Christodoulou, J 2010, Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia - MLASA syndrome, American Journal of Human Genetics, vol. 87, no. 1, pp. 52-59, doi: 10.1016/j.ajhg.2010.06.001.

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Title Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia - MLASA syndrome
Author(s) Riley, LG
Cooper, S
Hickey, P
Rudinger-Thirion, J
McKenzie, MatthewORCID iD for McKenzie, Matthew orcid.org/0000-0001-7508-1800
Compton, A
Lim, SC
Thorburn, D
Ryan, MT
Giegé, R
Bahlo, M
Christodoulou, J
Journal name American Journal of Human Genetics
Volume number 87
Issue number 1
Start page 52
End page 59
Total pages 8
Publisher Elsevier
Place of publication Amsterdam, The Netherlands
Publication date 2010-07-09
ISSN 0002-9297
Keyword(s) Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
TISSUE-SPECIFICITY
PUS1 GENE
DISEASE
DEFICIENCIES
MECHANISMS
DISORDERS
CHILDREN
FEATURES
MAPS
Language eng
DOI 10.1016/j.ajhg.2010.06.001
Field of Research 06 Biological Sciences
11 Medical And Health Sciences
HERDC Research category CN.1 Other journal article
Copyright notice ©2010, The American Society of Human Genetics
Free to Read? Yes
Persistent URL http://hdl.handle.net/10536/DRO/DU:30112397

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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.