Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Mitochondrial diseases can be caused by pathogenic variants in nuclear or mitochondrial DNA-encoded genes that often lead to multisystemic symptoms and can have any mode of inheritance. Using a single test, Genome Sequencing (GS) can effectively identify variants in both genomes, but it has not yet...

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Detalles Bibliográficos
Autores principales: Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072654/
https://www.ncbi.nlm.nih.gov/pubmed/33924034
http://dx.doi.org/10.3390/genes12040607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072654/
https://www.ncbi.nlm.nih.gov/pubmed/33924034
http://dx.doi.org/10.3390/genes12040607

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