共 50 条
- [1] A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy Graefe's Archive for Clinical and Experimental Ophthalmology, 2007, 245 : 1581 - 1583
- [2] A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers JOURNAL FRANCAIS D OPHTALMOLOGIE, 2007, 30 (02): : 161 - 164
- [3] A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy Journal of Neurology, 2006, 253 : 672 - 673
- [4] Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation Graefe's Archive for Clinical and Experimental Ophthalmology, 2006, 244 : 274 - 275
- [5] A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family Journal of Neurology, 2015, 262 : 2323 - 2328
- [9] A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation Journal of Neurology, 2008, 255 : 127 - 129