Cargando…
The Switch in the Diagnosis of Mitochondrial Diseases from the Classical ‘Function First’ To the NGS-based ‘Genetics First’ Diagnostic Era
The knowledge of causes and pathophysiology of mitochondrial diseases has increased exponentially in the last four decades. Recently, due to the decreased costs of new sequencing technologies (exome and whole genome sequencing), these technologies were applied more and more in clinical routine. The...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518096/ https://www.ncbi.nlm.nih.gov/pubmed/33179603 http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000008 |