GeneticsJCI InsightPeer-reviewed
Multimodal single-cell analysis of non-random heteroplasmy distribution in human retinal mitochondrial disease
Nathaniel K. Mullin, Andrew P. Voigt, Miles J. Flamme‐Wiese…·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.