RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement

RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are essential subunits of the oxidative phosphorylation (OXPHOS) complexes. Variants in RMND1 produce global defects in m...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Janer, Alexandre, van Karnebeek, Clara DM, Sasarman, Florin, Antonicka, Hana, Al Ghamdi, Malak, Shyr, Casper, Dunbar, Mary, Stockler-Ispiroglu, Sylvia, Ross, Colin J, Vallance, Hilary, Dionne, Janis, Wasserman, Wyeth W, Shoubridge, Eric A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4592087/
https://ncbi.nlm.nih.gov/pubmed/25604853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.293
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller