Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
- Marín-Quílez, A.
- Di Buduo, C.A.
- Díaz-Ajenjo, L.
- Abbonante, V.
- Vuelta, E.
- Soprano, P.M.
- Miguel-García, C.
- Santos-Mínguez, S.
- Serramito-Gómez, I.
- Ruiz-Sala, P.
- Peñarrubia, M.J.
- Pardal, E.
- Hernández-Rivas, J.M.
- González-Porras, J.R.
- García-Tuñón, I.
- Benito, R.
- Rivera, J.
- Balduini, A.
- Bastida, J.M.
ISSN: 1528-0020, 0006-4971
Year of publication: 2023
Volume: 141
Issue: 4
Pages: 406-421
Type: Article