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Recent advances in understanding the molecular genetic basis of mitochondrial disease
Mitochondrial disease is hugely diverse with respect to associated clinical presentations and underlying genetic causes, with pathogenic variants in over 300 disease genes currently described. Approximately half of these have been discovered in the last decade due to the increasingly widespread appl...
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| 出版年: | J Inherit Metab Dis |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley & Sons, Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7041634/ https://ncbi.nlm.nih.gov/pubmed/31021000 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12104 |
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