Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

  1. Marín-Quílez, A.
  2. Di Buduo, C.A.
  3. Díaz-Ajenjo, L.
  4. Abbonante, V.
  5. Vuelta, E.
  6. Soprano, P.M.
  7. Miguel-García, C.
  8. Santos-Mínguez, S.
  9. Serramito-Gómez, I.
  10. Ruiz-Sala, P.
  11. Peñarrubia, M.J.
  12. Pardal, E.
  13. Hernández-Rivas, J.M.
  14. González-Porras, J.R.
  15. García-Tuñón, I.
  16. Benito, R.
  17. Rivera, J.
  18. Balduini, A.
  19. Bastida, J.M.
Aldizkaria:
Blood

ISSN: 1528-0020,  0006-4971

Argitalpen urtea: 2023

Alea: 141

Zenbakia: 4

Orrialdeak: 406-421

Mota: Artikulua

DOI: 10.1182/BLOOD.2022016995 GOOGLE SCHOLAR lock_openSarbide irekia editor