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Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy
Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion, and mitochondrial dynamics is important for several cellular functions. DNM1L is the most important mediator of mitochondrial fission, with a role also in peroxisome division. Few reports of patients with genetic d...
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| Publicat a: | Hum Mutat |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5108486/ https://ncbi.nlm.nih.gov/pubmed/27328748 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23033 |
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