Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era

OBJECTIVE: We hypothesized that novel investigative pathways are needed to decrease diagnostic odysseys in pediatric mitochondrial disease and sought to determine the utility of clinical exome sequencing in a large cohort with suspected mitochondrial disease and to explore whether any of the traditi...

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Detalles Bibliográficos
Autores principales: Forny, Patrick, Footitt, Emma, Davison, James E., Lam, Amanda, Woodward, Cathy E., Batzios, Spyros, Bhate, Sanjay, Chakrapani, Anupam, Cleary, Maureen, Gissen, Paul, Grunewald, Stephanie, Hurst, Jane A., Scott, Richard, Heales, Simon, Jacques, Thomas S., Cullup, Thomas, Rahman, Shamima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161540/
https://www.ncbi.nlm.nih.gov/pubmed/34056100
http://dx.doi.org/10.1212/NXG.0000000000000597

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161540/
https://www.ncbi.nlm.nih.gov/pubmed/34056100
http://dx.doi.org/10.1212/NXG.0000000000000597

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