Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

  1. Takeichi, T.
  2. Torrelo, A.
  3. Lee, J.Y.W.
  4. Ohno, Y.
  5. Lozano, M.L.
  6. Kihara, A.
  7. Liu, L.
  8. Yasuda, Y.
  9. Ishikawa, J.
  10. Murase, T.
  11. Rodrigo, A.B.
  12. Fernández-Crehuet, P.
  13. Toi, Y.
  14. Mellerio, J.
  15. Rivera, J.
  16. Vicente, V.
  17. Kelsell, D.P.
  18. Nishimura, Y.
  19. Okuno, Y.
  20. Kojima, D.
  21. Ogawa, Y.
  22. Sugiura, K.
  23. Simpson, M.A.
  24. McLean, W.H.I.
  25. Akiyama, M.
  26. McGrath, J.A.
  27. Mostrar todos os autores +
Revista:
Journal of Investigative Dermatology

ISSN: 1523-1747 0022-202X

Ano de publicación: 2017

Volume: 137

Número: 11

Páxinas: 2344-2353

Tipo: Artigo

DOI: 10.1016/J.JID.2017.06.028 GOOGLE SCHOLAR lock_openAcceso aberto editor