Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Molecular Medicine
Reference55 articles.
1. A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family;Ahmad;J. Neurol.,2015
2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat. Genet.,2000
3. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy;Almind;BMC Med. Genet.,2011
4. The association of autosomal moderate deafness may be due to the R445H mutation in the OPA1 gene;Amati-Bonneau;Am. J. Opthal.,2003
5. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness;Amati-Bonneau;Ann. Neurol.,2005
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