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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248429/ https://www.ncbi.nlm.nih.gov/pubmed/32454403 http://dx.doi.org/10.1016/j.ebiom.2020.102784 |