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Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity
BACKGROUND: Mitochondrial disorders are difficult to diagnose due to extreme genetic and phenotypic heterogeneities. METHODS: We explored the utility of targeted next-generation sequencing for the diagnosis of mitochondrial disorders in 148 patients submitted for clinical testing. A panel of 447 nuc...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2013
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3827825/ https://ncbi.nlm.nih.gov/pubmed/24215330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-118 |
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