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Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)
Yelena Bykhovskaya, Kari Casas, Emebet Mengesha, Aida Inbal, Nathan Fischel-GhodsianVolume:
74
Année:
2004
Langue:
english
DOI:
10.1086/421530
Fichier:
PDF, 495 KB
english, 2004