Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Nature Genetics

Volumn 39, Issue 6, 2007, Pages 776-780

  Bourdon, Alice ^a   Minai, Limor ^a   Serre, Valérie ^a,b   Jais, Jean Philippe ^b   Sarzi, Emmanuelle ^a   Aubert, Sophie ^a   Chrétien, Dominique ^a   De Lonlay, Pascale ^a   Paquis Flucklinger, Véronique ^c   Arakawa, Hirofumi ^d   Nakamura, Yusuke ^d   Munnich, Arnold ^a   Rötig, Agnès ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN P53; RIBONUCLEOTIDE REDUCTASE;

ARTICLE; CLINICAL ARTICLE; DNA SPLICING; DNA SYNTHESIS; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL DNA REPLICATION; MUSCLE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; RRM2B GENE;

ANIMALS; CELL CYCLE PROTEINS; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LOD SCORE; MALE; MICE; MICE, KNOCKOUT; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RIBONUCLEOTIDE REDUCTASES; TUMOR SUPPRESSOR PROTEIN P53;

EID: 34249811206     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng2040     Document Type: Article

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