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A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree
Letter/Communication   Open access

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

M J Schnieders, W Goar, M Griess, B R Roos, T E Scheetz, E M Stone and J H Fingert
Eye (London), Vol.32(4), pp.843-845
04/2018
DOI: 10.1038/eye.2017.303
PMCID: PMC5898874
PMID: 29350691
url
https://doi.org/10.1038/eye.2017.303View
Published (Version of record) Open Access

Abstract

Mutation Genetic Predisposition to Disease GTP Phosphohydrolases - genetics Pedigree Humans Optic Atrophy, Autosomal Dominant - genetics

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