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1 Ergebnisse
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Novel mutations in the mitochondrial complex I assembly gen..:
Simon, Mariella T
;
Eftekharian, Shaya S
;
Stover, Alexander E
...
qt9pr0w4vz. , 2019
Link:
https://escholarship.org/uc/item/9pr0w4vz
RT Journal T1
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt9pr0w4vz&Exemplar=1&LAN=DE A1 Simon, Mariella T A1 Eftekharian, Shaya S A1 Stover, Alexander E A1 Osborne, Aaron F A1 Braffman, Bruce H A1 Chang, Richard C A1 Wang, Raymond Y A1 Steenari, Maija R A1 Tang, Sha A1 Hwu, Paul Wuh-Liang A1 Taft, Ryan J A1 Benke, Paul J A1 Abdenur, Jose E PB eScholarship, University of California YR 2019 K1 Biological Sciences K1 Biomedical and Clinical Sciences K1 Genetics K1 Human Genome K1 Brain Disorders K1 Neurodegenerative K1 2.1 Biological and endogenous factors K1 Aetiology K1 Adolescent K1 Biopsy K1 Child K1 Preschool K1 Electron Transport Complex I K1 Female K1 Humans K1 Infant K1 Leigh Disease K1 Male K1 Methyltransferases K1 Mitochondrial Diseases K1 Mitochondrial Proteins K1 Mutation K1 Pedigree K1 Phenotype K1 Skin K1 Exome Sequencing K1 Whole Genome Sequencing K1 Young Adult K1 Complex I K1 Leigh syndrome K1 Mitochondrial disease K1 Splicing K1 Hyponatremia K1 NDUFAF5 K1 Clinical Sciences K1 Genetics & Heredity JF qt9pr0w4vz LK http://dx.doi.org/https://escholarship.org/uc/item/9pr0w4vz DO https://escholarship.org/uc/item/9pr0w4vz SF ELIB - SuUB Bremen
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