Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt-1) in the NDUFS4 gene in Leigh syndrome

Human Genetics

Volumn 112, Issue 5-6, 2003, Pages 563-566

  Bénit, Paule ^a   Steffann, Julie ^a   Lebon, Sophie ^a   Chretien, Dominique ^a   Kadhom, Noman ^a   De Lonlay, Pascale ^a   Goldenberg, Alice ^a   Dumez, Yves ^a   Dommergues, Marc ^a   Rustin, Pierre ^a   Munnich, Arnold ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; DNA MARKER; MUTANT PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (QUINONE); REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE) IRON SULFUR PROTEIN 4; UNCLASSIFIED DRUG; MICROSATELLITE DNA; NDUFS4 PROTEIN, HUMAN; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHORION VILLUS; DISEASE SEVERITY; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; FAMILY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; INTRON; LEIGH DISEASE; LEUKODYSTROPHY; MICROSATELLITE MARKER; MYOCLONUS EPILEPSY; NONSENSE MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE) DEFICIENCY; RESPIRATORY CHAIN; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYMOLOGY; GENETICS; LIVER; MALE; METABOLISM; PEDIGREE; SKELETAL MUSCLE; STOP CODON;

CODON, NONSENSE; FEMALE; HUMANS; LEIGH DISEASE; LIVER; MALE; MICROSATELLITE REPEATS; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; NADH DEHYDROGENASE; NADH, NADPH OXIDOREDUCTASES; PEDIGREE;

EID: 0037943964     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0884-2     Document Type: Article

References (18)

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