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Improving the diagnosis of cobalamin and related defects by..:
Brasil, Sandra
;
Leal, Fátima
;
Vega, Ana
...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/s13023-018-0862-y
RT Journal T1
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
UL https://suche.suub.uni-bremen.de/peid=cr-10.1186_s13023-018-0862-y&Exemplar=1&LAN=DE A1 Brasil, Sandra A1 Leal, Fátima A1 Vega, Ana A1 Navarrete, Rosa A1 Ecay, María Jesús A1 Desviat, Lourdes R. A1 Riera, Casandra A1 Padilla, Natàlia A1 de la Cruz, Xavier A1 Couce, Mari Luz A1 Martin-Hernández, Elena A1 Morais, Ana A1 Pedrón, Consuelo A1 Peña-Quintana, Luis A1 Rigoldi, Miriam A1 Specola, Norma A1 de Almeida, Isabel Tavares A1 Vives, Inmaculada A1 Yahyaoui, Raquel A1 Rodríguez-Pombo, Pilar A1 Ugarte, Magdalena A1 Pérez-Cerda, Celia A1 Merinero, Begoña A1 Pérez, Belén PB Springer Science and Business Media LLC YR 2018 SN 1750-1172 JF Orphanet Journal of Rare Diseases VO 13 IS 1 LK http://dx.doi.org/https://doi.org/10.1186/s13023-018-0862-y DO https://doi.org/10.1186/s13023-018-0862-y SF ELIB - SuUB Bremen
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