Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases
Author:
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-018-0528-6.pdf
Reference71 articles.
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2. Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, et al. Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome. Pediatr Int. 2014;56:180–7.
3. Frazie, AE, Thorburn DR, Compton AG. Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology. J Biol Chem. 2017. https://doi.org/10.1074/jbc.R117.809194
4. Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, et al. Spectrum of combined respiratory chain defects. J Inherit Metab Dis. 2015;38:629–40.
5. Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, et al. Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification. Biochim Biophys Acta. 2014;1840:1355–9.
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