Article Dans Une Revue American Journal of Human Genetics Année : 2012

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

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hal-05019035 , version 1 (03-04-2025)

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Vanessa Vedrenne, Ali Gowher, Pascale de Lonlay, Patrick Nitschké, Valérie Serre, et al.. Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency. American Journal of Human Genetics, 2012, 91 (5), pp.912-918. ⟨10.1016/j.ajhg.2012.09.001⟩. ⟨hal-05019035⟩
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