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.
Revue:
Orphanet Journal of Rare Diseases

ISSN: 1750-1172

Année de publication: 2018

Volumen: 13

Número: 1

Type: Article

DOI: 10.1186/S13023-018-0862-Y GOOGLE SCHOLAR lock_openAccès ouvert editor
La source de données: Scopus