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