Improving the diagnosis of cobalamin and related defects by genomic analysis and functional and structural assessment of the variants identified - Brasil, S; Leal, F; Vega, A; Rodriguez-Pombo, P; Desviat, L R; Ugarte, M; Perez-Cerda, C; Merinero, B; Perez, B (EUROPEAN JOURNAL OF HUMAN GENETICS, 2018)