Functional consequences of mitochondrial tRNA(Trp) and tRNA(Arg) mutations causing combined OXPHOS defects

Combined oxidative phosphorylation (OXPHOS) system deficiencies are a group of mitochondrial disorders that are associated with a range of clinical phenotypes and genetic defects. They occur in approximately 30% of all OXPHOS disorders and around 4% are combined complex I, III and IV deficiencies. I...

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Autori principali: Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard, van den Heuvel, Lambert
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987211/
https://ncbi.nlm.nih.gov/pubmed/19809478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.169
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