Associated Papers
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease.
Schoonen M et al.
The Journal of Molecular Diagnostics : Jmd, 2019
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Li Y et al.
Gene, 2018
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.
Shimbo H et al.
Molecular Genetics and Metabolism Reports, 2014
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.
Tanigawa J et al.
Brain & Development, 2012
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