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What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance. Over the last three decades, our ability to recognize mitochondrial patients and diagnose these mutations, linking genotype to phenotype, has greatly improved. However, it has become increasingly clear that thes...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824070/ https://www.ncbi.nlm.nih.gov/pubmed/31700535 http://dx.doi.org/10.1111/eva.12851 |