Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Jenni M Elo, Srujana S Yadavalli, Liliya Euro, Pirjo Isohanni, Alexandra Götz, Christopher J Carroll, Leena Valanne, Fowzan S Alkuraya, Johanna Uusimaa, Anders Paetau, Eric M Caruso, Helena Pihko, Michael Ibba, Henna Tyynismaa, Anu Suomalainen

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Medicin og biovidenskab