tRNA variants causing Leber’s hereditary optic neuropathy?
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s11845-021-02680-6.pdf
Reference10 articles.
1. Shuai J, Shi J, Liang Y et al (2021) Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber’s hereditary optic neuropathy. Ir J Med Sci. https://doi.org/10.1007/s11845-021-02656-6
2. Finsterer J, Zarrouk-Mahjoub S, Shoffner JM (2018) MERRF classification: implications for diagnosis and clinical trials. Pediatr Neurol 80:8–23. https://doi.org/10.1016/j.pediatrneurol.2017.12.005
3. Zhang J, Zhao F, Fu Q et al (2013) Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families. Mitochondrion 13(6):772–81. https://doi.org/10.1016/j.mito.2013.05.002
4. Dai Y, Wang C, Nie Z et al (2018) Mutation analysis of Leber’s hereditary optic neuropathy using a multi-gene panel. Biomed Rep 8(1):51–58. https://doi.org/10.3892/br.2017.1014
5. Ji Y, Qiao L, Liang X et al (2017) Leber's hereditary optic neuropathy is potentially associated with a novel m.5587T>C mutation in two pedigrees. Mol Med Rep 16(6):8997–9004. https://doi.org/10.3892/mmr.2017.7734
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