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Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

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Description scientific article
Author/s

author: Valeria Tiranti  Massimo Zeviani  Paolo Gasparini  Brigitte Vollmer  Eleonora Lamantea  Shamima Rahman  Carlo Dionisi-Vici  Adamo Pio d'Adamo  Barbara Garavaglia 

Publication date January 19, 2004
Language English
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