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Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene.
Kazushi Ichikawa
Yu Tsuyusaki
Hiroko Shimbo
Tomohide Goto
Published in:
Pediatrics international : official journal of the Japan Pediatric Society (2019)
Keyphrases
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late onset
early onset
oxidative stress
copy number
genome wide
case report
genome wide identification
gene expression
genome wide analysis