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

BACKGROUND: Leber’s Hereditary Optic Neuropathy (LHON; MIM 535000) is one of the most commonly inherited optic neuropathies and it results in significant visual morbidity among young adults with a peak age of onset between the ages of 15–30. The worldwide incidence of LHON is approximately 1 in 31,0...

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Detalles Bibliográficos
Autores principales: Eustace Ryan, Siobhan, Ryan, Fergus, Barton, David, O’Dwyer, Veronica, Neylan, Derek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Methodology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657363/
https://www.ncbi.nlm.nih.gov/pubmed/26605371
http://dx.doi.org/10.1186/s40662-015-0028-0

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