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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Main Authors: Lieber, Daniel S., Calvo, Sarah E., Shanahan, Kristy, Slate, Nancy G., Liu, Shangtao, Hershman, Steven G., Gold, Nina B., Chapman, Brad A., Thorburn, David R., Berry, Gerard T., Schmahmann, Jeremy D., Borowsky, Mark L., Mueller, David M., Sims, Katherine B., Mootha, Vamsi K.
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2013
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Article
Online dostop: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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