Article

Multimodal single-cell analysis of non-random heteroplasmy distribution in human retinal mitochondrial disease

2022-06-22

Abstract excerpt

Variants within the high copy number mitochondrial genome (mtDNA) can disrupt organelle function and lead to severe multi-system disease. The wide range of manifestations observed in mitochondrial disease patients results from varying fractions of abnormal mtDNA molecules in different cells and tissues, a phenomenon termed heteroplasmy. However, the landscape of heteroplasmy across cell types within tissues and it...

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Literature Corpus work: e99cf7e5-2085-586b-b5a7-99da557242bb
DOI: 10.1101/2022.06.20.496449

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