11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans

ABSTRACT IMPACT: Alterations in mitochondrial metabolism affect any tissue, especially those with the highest demand for energy. As the symptoms and clinical manifestations are heterogenous, disease diagnosis is challenging. The implementation of genetic-first approach in the diagnosis of mitochondr...

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Detalles Bibliográficos
Autores principales: Albino, Elinette, Buxo, Carmen, Scaglia, Fernando, Santiago-Cornier, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2021
Materias:
Precision Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827884/
http://dx.doi.org/10.1017/cts.2021.671

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827884/
http://dx.doi.org/10.1017/cts.2021.671

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