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11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans
ABSTRACT IMPACT: Alterations in mitochondrial metabolism affect any tissue, especially those with the highest demand for energy. As the symptoms and clinical manifestations are heterogenous, disease diagnosis is challenging. The implementation of genetic-first approach in the diagnosis of mitochondr...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cambridge University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827884/ http://dx.doi.org/10.1017/cts.2021.671 |