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Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

PURPOSE: The majority of patients with autosomal dominant optic atrophy (DOA) harbour pathogenic OPA1mutations. Although DOA is characterised by the preferential loss of retinal ganglion cells (RGCs), about 20% of patients with OPA1mutations will develop a more severe disease variant (DOA+), with ad...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Yu-Wai-Man, P, Bailie, M, Atawan, A, Chinnery, P F, Griffiths, P G
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2011
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3094220/
https://ncbi.nlm.nih.gov/pubmed/21378995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2011.2
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