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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: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2013
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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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