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Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories
Molecular diagnosis of complex dual genome mitochondrial disorders is a challenge. It requires the identification of deleterious mutations in one of the ~1,500 nuclear genes and the mitochondrial genome. If the molecular defect is in the mitochondrial genome, quantification of degree of mutation loa...
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer-Verlag
2012
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3625389/ https://ncbi.nlm.nih.gov/pubmed/23269496 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13311-012-0170-5 |
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