A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome

Molecular Genetics and Metabolism

Volumn 90, Issue 4, 2007, Pages 379-382

  Lebon, Sophie ^a   Rodriguez, Diana ^b   Bridoux, Delphine ^c   Zerrad, Amal ^c   Rötig, Agnès ^a   Munnich, Arnold ^a   Legrand, Alain ^c   Slama, Abdelhamid ^c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c BICÊTRE HOSPITAL   (France)

Author keywords

Complex I deficiency; Leigh syndrome; Mitochondria; NDUSF7; Respiratory chain deficiency

Indexed keywords

ARGININE; HISTIDINE; NUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME DEFECT; ETHNIC GROUP; FEMALE; GENE MUTATION; GENETIC CONSERVATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LEIGH DISEASE; METABOLIC DISORDER; PRIORITY JOURNAL; RESPIRATORY CHAIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; FEMALE; HUMANS; LEIGH DISEASE; MOLECULAR SEQUENCE DATA; NADH DEHYDROGENASE;

EID: 33947579748     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.12.007     Document Type: Article

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