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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2010
Предметы:
Article
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы