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Volumn 489, Issue 2-3, 2001, Pages 259-262
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Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome
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Author keywords
cAMP dependent phosphoprotein; Complex I; Human fibroblast; NDUFS4 gene
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Indexed keywords
CHOLERA TOXIN;
COMPLEMENTARY DNA;
CYCLIC AMP;
PROTEIN SUBUNIT;
REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE;
REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);
ARTICLE;
CASE REPORT;
CONTROLLED STUDY;
ENZYME ACTIVATION;
ENZYME ACTIVITY;
ENZYME PHOSPHORYLATION;
GENE DUPLICATION;
GENE MUTATION;
HUMAN;
HUMAN CELL;
LEIGH DISEASE;
MALE;
PRIORITY JOURNAL;
SKIN FIBROBLAST;
AMINO ACID SEQUENCE;
CELLS, CULTURED;
CYCLIC AMP;
ELECTRON TRANSPORT COMPLEX I;
ENZYME ACTIVATION;
FATAL OUTCOME;
FIBROBLASTS;
HUMANS;
INFANT;
LEIGH DISEASE;
MALE;
MOLECULAR SEQUENCE DATA;
MUTATION;
NADH, NADPH OXIDOREDUCTASES;
PHOSPHORYLATION;
PROTEIN SUBUNITS;
SEQUENCE HOMOLOGY, AMINO ACID;
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EID: 0035793474
PISSN: 00145793
EISSN: None
Source Type: Journal
DOI: 10.1016/S0014-5793(00)02334-6 Document Type: Article |
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Times cited : (80)
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References (18)
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