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. Erakutsi egile guztiak +
Aldizkaria:
Journal of Investigative Dermatology

ISSN: 1523-1747 0022-202X

Argitalpen urtea: 2017

Alea: 137

Zenbakia: 11

Orrialdeak: 2344-2353

Mota: Artikulua

DOI: 10.1016/J.JID.2017.06.028 GOOGLE SCHOLAR lock_openSarbide irekia editor