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Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
Studies have shown that difference in mtDNA mutation load among tissues is a result of postnatal modification. We present five family members with the m.8344A>G with variable phenotypes but uniform intrapersonal distribution of mutation load, indicating that there is no postnatal modification of...
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| Publicado no: | Clin Case Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5715413/ https://ncbi.nlm.nih.gov/pubmed/29225851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1096 |
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