Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1344-1352

  Bénit, Paule ^a   Chretien, Dominique ^a   Kadhom, Nohman ^a   De Lonlay Debeney, Pascale ^a   Cormier Daire, Valérie ^a   Cabral, Aguinaldo ^b   Peudenier, Sylviane ^c   Rustin, Pierre ^a   Munnich, Arnold ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c SERVICE DE RHUMATOLOGIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN NDUFS1; PROTEIN NDUFV1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; DELETION MUTANT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; LEIGH DISEASE; MALE; MITOCHONDRIAL RESPIRATION; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SKIN FIBROBLAST;

ATAXIA;

EID: 0034988212     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320603     Document Type: Article

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