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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Detalles Bibliográficos
Autores principales: DaRe, Jeana T, Vasta, Valeria, Penn, John, Tran, Nguyen-Thao B, Hahn, Si Houn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827825/
https://www.ncbi.nlm.nih.gov/pubmed/24215330
http://dx.doi.org/10.1186/1471-2350-14-118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827825/
https://www.ncbi.nlm.nih.gov/pubmed/24215330
http://dx.doi.org/10.1186/1471-2350-14-118

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