Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11033-021-06452-4.pdf
Reference32 articles.
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3. Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM (2016) Mitochondrial diseases. Nat Rev Dis Primers 2:16080. https://doi.org/10.1038/nrdp.2016.80
4. Chinnery PF, Elliott C, Green GR (2000) The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123:82–92. https://doi.org/10.1093/brain/123.1.82
5. Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ (2013) Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med 15:388–394. https://doi.org/10.1038/gim.2012.144
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