<i>SSBP1</i> mutations in dominant optic atrophy with variable retinal degeneration - Concepedia

Concepedia

Publication | Open Access

<i>SSBP1</i> mutations in dominant optic atrophy with variable retinal degeneration

DOI Full Paper Access

58

Citations

39

References

2019

Year

Neringa Jurkutė, Costin Leu, Hans‐Martin Pogoda, Gavin Arno, Anthony G. Robson, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Susanne Motameny, Mohammad R. Toliat,

Annals of Neurology

Abstract

SSBP1 is an essential protein for mitochondrial DNA replication and maintenance. Our data have established pathogenic variants in SSBP1 as a cause of ADOA and variable retinal degeneration. ANN NEUROL 2019;86:368-383.

References

	Year	Citations

Page 1