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- 2016
-
Mark
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders
(
- Contribution to journal › Article
- 2014
-
Mark
A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy
(
- Contribution to journal › Article
- 2010
-
Mark
A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder
(
- Contribution to journal › Article
- 2009
-
Mark
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome
(
- Contribution to journal › Article