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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Bibliografiska uppgifter
I publikationen:Eur J Hum Genet
Huvudupphovsmän: Zeharia, Avraham, Friedman, Jonathan R, Tobar, Ana, Saada, Ann, Konen, Osnat, Fellig, Yacov, Shaag, Avraham, Nunnari, Jodi, Elpeleg, Orly
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2016
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Article
Länkar: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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