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Loss of LRPPRC causes ATP synthase deficiency

Defects of the oxidative phosphorylation system, in particular of cytochrome-c oxidase (COX, respiratory chain complex IV), are common causes of Leigh syndrome (LS), which is a rare neurodegenerative disorder with severe progressive neurological symptoms that usually present during infancy or early...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Mourier, Arnaud, Ruzzenente, Benedetta, Brandt, Tobias, Kühlbrandt, Werner, Larsson, Nils-Göran
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2014
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3990160/
https://ncbi.nlm.nih.gov/pubmed/24399447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt652
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