SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Del Dotto, Valentina

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. [electronic resource] - The Journal of clinical investigation 01 2020 - 108-125 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

1558-8238

10.1172/JCI128514 doi


Animals
DNA Polymerase gamma--physiology
DNA Replication
DNA, Mitochondrial--genetics
DNA-Binding Proteins--chemistry
Exome
Female
Humans
Male
Mitochondria--metabolism
Mitochondrial Proteins--chemistry
Mutation
Optic Atrophies, Hereditary--etiology
Zebrafish