Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
- Brasil, S.
- Leal, F.
- Vega, A.
- Navarrete, R.
- Ecay, M.J.
- Desviat, L.R.
- Riera, C.
- Padilla, N.
- De La Cruz, X.
- Couce, M.L.
- Martin-Hernández, E.
- Morais, A.
- Pedrón, C.
- Peña-Quintana, L.
- Rigoldi, M.
- Specola, N.
- De Almeida, I.T.
- Vives, I.
- Yahyaoui, R.
- Rodríguez-Pombo, P.
- Ugarte, M.
- Pérez-Cerda, C.
- Merinero, B.
- Pérez, B.
Journal:
Orphanet Journal of Rare Diseases
ISSN: 1750-1172
Year of publication: 2018
Volume: 13
Issue: 1
Type: Article