Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

The mitochondrial inner membrane possesses distinct subdomains including cristae, which are lamellar structures invaginated into the mitochondrial matrix and contain the respiratory complexes. Generation of inner membrane domains requires the complex interplay between the respiratory complexes, mito...

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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: Zeharia, Avraham, Friedman, Jonathan R, Tobar, Ana, Saada, Ann, Konen, Osnat, Fellig, Yacov, Shaag, Avraham, Nunnari, Jodi, Elpeleg, Orly
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117932/
https://ncbi.nlm.nih.gov/pubmed/27485409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.83
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