Your institution may have access to this item. Find your institution then sign in to continue.
Title
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
Authors
Mineri, R; Rimoldi, M; Burlina, A B; Koskull, S; Perletti, C; Heese, B; von Döbeln, U; Mereghetti, P; Di Meo, I; Invernizzi, F; Zeviani, M; Uziel, G; Tiranti, V
Publication
Journal of Medical Genetics (JMG), 2008, Vol 45, Issue 7, p473