Multimodal single-cell analysis of non-random heteroplasmy distribution in human retinal mitochondrial disease
Nathaniel K. Mullin, Andrew P. Voigt, Miles J. Flamme‐Wiese, Xiuying Liu, Megan J. Riker, Katayoun Varzavand, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
The paper uses multimodal single-cell sequencing to show non-random distribution of a pathogenic mtDNA variant in retinal cells of a MELAS patient.
JCI Insight · Jun 8, 2023Peer-reviewedGenetics