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

Variants within the high copy number mitochondrial genome (mtDNA) can disrupt organelle function and lead to severe multisystem disease. The wide range of manifestations observed in patients with mitochondrial disease results from varying fractions of abnormal mtDNA molecules in different cells and...

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Detalles Bibliográficos
Autores principales: Mullin, Nathaniel K., Voigt, Andrew P., Flamme-Wiese, Miles J., Liu, Xiuying, Riker, Megan J., Varzavand, Katayoun, Stone, Edwin M., Tucker, Budd A., Mullins, Robert F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443808/
https://www.ncbi.nlm.nih.gov/pubmed/37289546
http://dx.doi.org/10.1172/jci.insight.165937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443808/
https://www.ncbi.nlm.nih.gov/pubmed/37289546
http://dx.doi.org/10.1172/jci.insight.165937

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