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.
Journal:
Orphanet Journal of Rare Diseases

ISSN: 1750-1172

Year of publication: 2018

Volume: 13

Issue: 1

Type: Article

DOI: 10.1186/S13023-018-0862-Y GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus