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
Author:
Funder
Fight for Sight Ireland
Publisher
Springer Science and Business Media LLC
Link
http://link.springer.com/content/pdf/10.1186/s40662-015-0028-0.pdf
Reference33 articles.
1. Leber T. Ueber hereditaere und congenital angelegte sehnervenleiden. Graefes Arch Ophthalmol. 1871;17:249–91.
2. Sadun AA, La Morgia C, Carelli V. Leber's Hereditary Optic Neuropathy. Curr Treat Options Neurol. 2011;13(1):109–17.
3. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242(4884):1427–30.
4. Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet. 2003;72(2):333–9.
5. Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, et al. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 2006;141(4):676–82.
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