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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Veröffentlicht in:Neurol Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wolters Kluwer 2021
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8161540/
https://ncbi.nlm.nih.gov/pubmed/34056100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000597
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