Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Nature Genetics

Volumn 11, Issue 2, 1995, Pages 144-149

  Bourgeron, Thomas ^a   Rustin, Pierre ^a   Chretien, Dominique ^a   Birch Machin, Mark ^a   Bourgeois, Marie ^a   Viegas Péquignot, Evani ^a   Munnich, Arnold ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

SUCCINATE DEHYDROGENASE (UBIQUINONE);

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 3Q; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYBRID CELL; LEIGH DISEASE; MALE; MITOCHONDRIAL RESPIRATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CASE REPORT; CATTLE; CELL NUCLEUS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; CLONING, MOLECULAR; CONSANGUINITY; CYTOCHROME-C OXIDASE; DNA PRIMERS; FEMALE; FIBROBLASTS; HOMOZYGOTE; HUMAN; LYMPHOCYTES; MALE; MITOCHONDRIA; MITOCHONDRIA, MUSCLE; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MUTAGENESIS, SITE-DIRECTED; NUCLEAR FAMILY; OXIDOREDUCTASES; PEDIGREE; POINT MUTATION; RESTRICTION MAPPING; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID; SUCCINATE DEHYDROGENASE; SUPPORT, NON-U.S. GOV'T;

EID: 0029159804     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1095-144     Document Type: Article

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