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Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups of inherited diseases. The vast phenotypic overlap with other disease entities together with the absence of reliable biomarkers act as driving forces for the integration of unbiased methodologies early in the d...

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Detalhes bibliográficos
Publicado no:eBioMedicine
Main Authors: Stenton, Sarah L., Prokisch, Holger
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7248429/
https://ncbi.nlm.nih.gov/pubmed/32454403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2020.102784
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