A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

Molecular Genetics and Metabolism

Volumn 92, Issue 1-2, 2007, Pages 104-108

  Lebon, Sophie ^a   Minai, Limor ^a   Chretien, Dominique ^a   Corcos, Johanna ^a   Serre, Valérie ^a   Kadhom, Noman ^a   Steffann, Julie ^a   Pauchard, Jean Yves ^b   Munnich, Arnold ^a   Bonnefont, Jean Paul ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Hôpital de Pontarlier   (France)

Author keywords

Complex I assembly; Cryptic exon; Leigh syndrome; Mitochondria; NDUFS7

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; BIOGENESIS; CASE REPORT; COMPLEX 1 DEFICIENCY; COMPLEX I DEFICIENCY; ENZYME DEFICIENCY; ENZYME ISOLATION; EXON; GENE ACTIVATION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; INFANT; INTRON; LEIGH DISEASE; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN ASSEMBLY; RESPIRATORY CHAIN;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; EXONS; FEMALE; HUMANS; INFANT; INTRONS; LEIGH DISEASE; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; NADH DEHYDROGENASE; PEDIGREE; RNA SPLICING;

EID: 34548441252     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.05.010     Document Type: Article

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