Work

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

Year: 2018

Type: article

Source: Eye

DOI: 10.1038/eye.2017.303

Authors: M J Schnieders, W Goar, M Griess, B R Roos, T E Scheetz, E M Stone, J H Fingert

Institution: University of Iowa

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Eye Institute, National Institute of General Medical Sciences

Awards: Predoctoral Training Program in Genetics, Multidisciplinary Investigations in Visual Science

OpenAlex ID: W2783808526

FWCI: 0.089

Cites: 6

Cited by: 4

Related to: 10