A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.
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| Year of Publication | :  2018 | 
| Journal | :  Eye (London, England) | 
| Date Published | :  2018 | 
| ISSN Number | :  0950-222X | 
| URL | :  http://dx.doi.org/10.1038/eye.2017.303 | 
| DOI | :  10.1038/eye.2017.303 | 
| Short Title | :  Eye (Lond) | 
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