Ethylmalonic Encephalopathy Is Caused by Mutations inETHE1, a Gene Encoding a Mitochondrial Matrix Protein


Valeria Tiranti,Pio D’Adamo,Egill Briem,Gianfrancesco Ferrari,Rossana Mineri,Eleonora Lamantea,Hanna Mandel,Paolo Balestri,Maria-Teresa Garcia-Silva,Brigitte Vollmer,Piero Rinaldo,Si Houn Hahn,James Leonard,Shamima Rahman,Carlo Dionisi-Vici, et al.


The American Journal of Human Genetics




February 2004

Copyright © 2004, Elsevier

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