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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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Библиографические подробности
Главные авторы: DaRe, Jeana T, Vasta, Valeria, Penn, John, Tran, Nguyen-Thao B, Hahn, Si Houn
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2013
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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