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Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions
TIMM50 is an essential component of the TIM23 complex, the mitochondrial inner membrane machinery that imports cytosolic proteins containing a mitochondrial targeting presequence into the mitochondrial inner compartment. Whole exome sequencing (WES) identified compound heterozygous pathogenic mutati...
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| Publicado no: | EMBO Mol Med |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6180300/ https://ncbi.nlm.nih.gov/pubmed/30190335 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201708698 |
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