Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

Multiple-respiratory-chain deficiency represents an important cause of mitochondrial disorders. Hitherto, however, mutations in genes involved in mtDNA maintenance and translation machinery only account for a fraction of cases. Exome sequencing in two siblings, born to consanguineous parents, with s...

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Autores principales: Vedrenne, Vanessa, Gowher, Ali, De Lonlay, Pascale, Nitschke, Patrick, Serre, Valérie, Boddaert, Nathalie, Altuzarra, Cecilia, Mager-Heckel, Anne-Marie, Chretien, Florence, Entelis, Nina, Munnich, Arnold, Tarassov, Ivan, Rötig, Agnès
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487136/
https://ncbi.nlm.nih.gov/pubmed/23084291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.001
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