Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies

PURPOSE: Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. About 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have only been reported in two pe...

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Detaylı Bibliyografya
Asıl Yazarlar: Yu-Wai-Man, Patrick, Shankar, Suma P., Biousse, Valérie, Miller, Neil R., Bean, Lora J.H., Coffee, Bradford, Hegde, Madhuri, Newman, Nancy J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3044822/
https://ncbi.nlm.nih.gov/pubmed/21036400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2010.07.029
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