Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

  1. Brasil, S.
  2. Leal, F.
  3. Vega, A.
  4. Navarrete, R.
  5. Ecay, M.J.
  6. Desviat, L.R.
  7. Riera, C.
  8. Padilla, N.
  9. De La Cruz, X.
  10. Couce, M.L.
  11. Martin-Hernández, E.
  12. Morais, A.
  13. Pedrón, C.
  14. Peña-Quintana, L.
  15. Rigoldi, M.
  16. Specola, N.
  17. De Almeida, I.T.
  18. Vives, I.
  19. Yahyaoui, R.
  20. Rodríguez-Pombo, P.
  21. Ugarte, M.
  22. Pérez-Cerda, C.
  23. Merinero, B.
  24. Pérez, B.
Revista:
Orphanet Journal of Rare Diseases

ISSN: 1750-1172

Any de publicació: 2018

Volum: 13

Número: 1

Tipus: Article

DOI: 10.1186/S13023-018-0862-Y GOOGLE SCHOLAR lock_openAccés obert editor
Font de les dades: Scopus