Hereditary Optic Neuropathy
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-74103-7_9
Reference53 articles.
1. Bocquet B, Lacroux A, Surget MO, et al. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol. 2013;20(1):13–25. https://doi.org/10.3109/09286586.2012.737890.
2. Eustace Ryan S, Ryan F, Barton D, O'Dwyer V, Neylan D. Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients. Eye Vis (Lond). 2015;2:18. Published 2015 Oct 25.
3. Mascialino B, Leinonen M, Meier T. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe. Eur J Ophthalmol. 2012;22(3):461–5. https://doi.org/10.5301/ejo.5000055.
4. Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet. 2008;83(2):254–60. https://doi.org/10.1016/j.ajhg.2008.07.004.
5. Jiang P, Liang M, Zhang J, et al. Prevalence of mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2015;56(8):4778–88. https://doi.org/10.1167/iovs.14-16158.
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