Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses

  1. Medina-Carmona, E.
  2. Betancor-Fernández, I.
  3. Santos, J.
  4. Mesa-Torres, N.
  5. Grottelli, S.
  6. Batlle, C.
  7. Naganathan, A.N.
  8. Oppici, E.
  9. Cellini, B.
  10. Ventura, S.
  11. Salido, E.
  12. Pey, A.L.
Journal:
Human Molecular Genetics

ISSN: 1460-2083 0964-6906

Year of publication: 2019

Volume: 28

Issue: 1

Pages: 1-15

Type: Article

DOI: 10.1093/HMG/DDY323 GOOGLE SCHOLAR