Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
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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 reported in ADOA, the frequency of OPA1 genomic rearrangements in Denmark, where ADOA has a high prevalence, is unknown. The aim of the study was to identify copy number variations in OPA1 in Danish ADOA patients.
Originalsprog | Engelsk |
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Tidsskrift | BMC Medical Genetics |
Vol/bind | 12 |
Udgave nummer | 1 |
Sider (fra-til) | 49 |
DOI | |
Status | Udgivet - 2011 |
ID: 33503854