Articles with "opa1 associated" as a keyword



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

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Published in 2018 at "Eye"

DOI: 10.1038/eye.2017.303

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

Keywords: novel mutation; severe phenotype; opa1 associated; leu396arg opa1 ... See more keywords