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Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
Vanessa Vedrenne, Ali Gowher, Pascale De Lonlay, Patrick Nitschke, Valérie Serre, Nathalie Boddaert, Cecilia Altuzarra, Anne-Marie Mager-Heckel, Florence Chretien, Nina Entelis, Arnold Munnich, Ivan TVolume:
91
Year:
2012
Language:
english
DOI:
10.1016/j.ajhg.2012.09.001
File:
PDF, 748 KB
english, 2012