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MtDNA-maintenance defects: syndromes and genes
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors...
Tallennettuna:
| Julkaisussa: | J Inherit Metab Dis |
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| Päätekijät: | , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer Netherlands
2017
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5500664/ https://ncbi.nlm.nih.gov/pubmed/28324239 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0027-5 |
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