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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effectively evaluate both the nuclear and mitochondrial g...
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| Vydáno v: | Genomics |
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| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2013
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4557607/ https://ncbi.nlm.nih.gov/pubmed/23631824 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2013.04.013 |
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