Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated...
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial DNA or in nuclear genes that encode mitochondrial translation factors can result in impaired OXPHOS biogenesis and m...
Alternative Titles
Full title
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7940479
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7940479
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-020-00757-x
