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Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
BACKGROUND: Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently repo...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2011
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3079616/ https://ncbi.nlm.nih.gov/pubmed/21457585 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-49 |
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