Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R. Mineri, M. Rimoldi, A. B. Burlina, S. Koskull, C. Perletti, B. Heese, U. Von Döbeln, P. Mereghetti, I. Di Meo, F. Invernizzi, M. Zeviani, G. Uziel, V. Tiranti

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Medicine & Life Sciences