Brito et al., 2015 - Google Patents
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsBrito et al., 2015
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- 371770179396564152
- Author
- Brito S
- Thompson K
- Campistol J
- Colomer J
- Hardy S
- He L
- Fernández-Marmiesse A
- Palacios L
- Jou C
- Jiménez-Mallebrera C
- Armstrong J
- Montero R
- Artuch R
- Tischner C
- Wenz T
- McFarland R
- Taylor R
- Publication year
- Publication venue
- Frontiers in genetics
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Snippet
Background: Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes …
- 230000035772 mutation 0 title abstract description 32
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