Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

Annals of Neurology

Volumn 62, Issue 6, 2007, Pages 579-587

  Sarzi, Emmanuelle ^a   Goffart, Steffi ^b   Serre, Valérie ^a   Chrétien, Dominique ^a   Slama, Abdelhamid ^c   Munnich, Arnold ^a   Spelbrink, Johannes N ^b   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

^c BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE; MITOCHONDRIAL DNA; MONOMER; RECOMBINANT PROTEIN; TWINKLE HELICASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE; GENE DELETION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MICROSATELLITE MARKER; MITOCHONDRIAL DNA DEPLETION SYNDROME; OXIDATIVE PHOSPHORYLATION; PEO1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN;

BRAIN DISEASES; CONSANGUINITY; DNA HELICASES; DNA, MITOCHONDRIAL; GENE DOSAGE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; LIVER DISEASES; MICROSATELLITE REPEATS; MITOCHONDRIAL DISEASES; MUTATION; SIBLINGS; SYNDROME;

EID: 37849003416     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.21207     Document Type: Article

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