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A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.

Authors :
Schnieders MJ
Goar W
Griess M
Roos BR
Scheetz TE
Stone EM
Fingert JH
Source :
Eye (London, England) [Eye (Lond)] 2018 Apr; Vol. 32 (4), pp. 843-845. Date of Electronic Publication: 2018 Jan 19.
Publication Year :
2018

Details

Language :
English
ISSN :
1476-5454
Volume :
32
Issue :
4
Database :
MEDLINE
Journal :
Eye (London, England)
Publication Type :
Editorial & Opinion
Accession number :
29350691
Full Text :
https://doi.org/10.1038/eye.2017.303