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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Almind, Gitte J, Grønskov, Karen, Milea, Dan, Larsen, Michael, Brøndum-Nielsen, Karen, Ek, Jakob
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2011
Aiheet:
Linkit: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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