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Targeted exome sequencing of suspected mitochondrial disorders
OBJECTIVE: To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and genetic heterogeneity. METHODS: We considered a diverse set of 102 patients with suspected mitochondrial disorders based on clinical, biochemica...
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| Autori principali: | , , , , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Lippincott Williams & Wilkins
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3719425/ https://ncbi.nlm.nih.gov/pubmed/23596069 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182918c40 |
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