Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Mitochondrial complex I deficiency is the most prevalent and least understood disorder of the oxidative phosphorylation system. The genetic cause of many cases of isolated complex I deficiency is unknown because of insufficient understanding of the complex I assembly process and the factors involved...

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Main Authors: Saada, Ann, Vogel, Rutger O., Hoefs, Saskia J., van den Brand, Mariël A., Wessels, Hans J., Willems, Peter H., Venselaar, Hanka, Shaag, Avraham, Barghuti, Flora, Reish, Orit, Shohat, Mordechai, Huynen, Martijn A., Smeitink, Jan A.M., van den Heuvel, Lambert P., Nijtmans, Leo G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694978/
https://ncbi.nlm.nih.gov/pubmed/19463981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.020
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