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Volumn 44, Issue 4, 2007, Pages
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Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
a
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Author keywords
[No Author keywords available]
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Indexed keywords
MITOCHONDRIAL DNA;
MITOCHONDRIAL PROTEIN;
ND5 PROTEIN, HUMAN;
PROTEIN SUBUNIT;
REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);
UNCLASSIFIED DRUG;
AMINO ACID SEQUENCE;
ANIMAL;
ARTICLE;
BRAIN;
CASE REPORT;
CHEMISTRY;
CHILD;
CONGENITAL MALFORMATION;
DISORDERS OF MITOCHONDRIAL FUNCTIONS;
ENZYMOLOGY;
FATALITY;
FEMALE;
GENETIC SCREENING;
GENETICS;
HIGH PERFORMANCE LIQUID CHROMATOGRAPHY;
HUMAN;
HYDROPHOBICITY;
LEIGH DISEASE;
MALE;
MELAS SYNDROME;
MISSENSE MUTATION;
MOLECULAR GENETICS;
MUSCLE MITOCHONDRION;
NEWBORN;
NUCLEOTIDE SEQUENCE;
OXIDATIVE PHOSPHORYLATION;
PHENOTYPE;
PHYSIOLOGY;
SEQUENCE ALIGNMENT;
SEQUENCE HOMOLOGY;
TWINS;
AMINO ACID SEQUENCE;
ANIMALS;
BRAIN;
CHILD;
CHROMATOGRAPHY, HIGH PRESSURE LIQUID;
DISEASES IN TWINS;
DNA MUTATIONAL ANALYSIS;
DNA, MITOCHONDRIAL;
ELECTRON TRANSPORT COMPLEX I;
FATAL OUTCOME;
FEMALE;
GENETIC SCREENING;
HUMANS;
HYDROPHOBICITY;
INFANT, NEWBORN;
LEIGH DISEASE;
MALE;
MELAS SYNDROME;
MITOCHONDRIA, MUSCLE;
MITOCHONDRIAL DISEASES;
MITOCHONDRIAL PROTEINS;
MOLECULAR SEQUENCE DATA;
MUTATION, MISSENSE;
OXIDATIVE PHOSPHORYLATION;
PHENOTYPE;
PROTEIN SUBUNITS;
SEQUENCE ALIGNMENT;
SEQUENCE HOMOLOGY, AMINO ACID;
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EID: 34248394788
PISSN: None
EISSN: 14686244
Source Type: Journal
DOI: 10.1136/jmg.2006.045716 Document Type: Article |
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Times cited : (59)
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References (0)
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