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Tissue- and cell-type–specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model

Mitochondrial DNA (mtDNA) mutations manifest with vast clinical heterogeneity. The molecular basis of this variability is mostly unknown because the lack of model systems has hampered mechanistic studies. We generated induced pluripotent stem cells from patients carrying the most common human diseas...

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Detalhes bibliográficos
Main Authors: Hämäläinen, Riikka H., Manninen, Tuula, Koivumäki, Hanna, Kislin, Mikhail, Otonkoski, Timo, Suomalainen, Anu
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3780874/
https://ncbi.nlm.nih.gov/pubmed/24003133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1311660110
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