Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy

PURPOSE: Autosomal dominant optic atrophy (ADOA) is the most common form of hereditary optic neuropathy caused by mutations in the optic atrophy 1 (OPA1) gene. It is characterized by insidious onset with a selective degeneration of retinal ganglion cells, variable loss of visual acuity, temporal opt...

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Detaylı Bibliyografya
Asıl Yazarlar: Gallus, Gian Nicola, Cardaioli, Elena, Rufa, Alessandra, Da Pozzo, Paola, Bianchi, Silvia, D’Eramo, Camilla, Collura, Michele, Tumino, Manuela, Pavone, Lorenzo, Federico, Antonio
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Molecular Vision 2010
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2820104/
https://ncbi.nlm.nih.gov/pubmed/20157369
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