| Autor: |
Sirenko, Maria, Bernard, Elsa, Creignou, Maria, Domenico, Dylan, Farina, Andrea, Arango Ossa, Juan E., Kosmider, Olivier, Hasserjian, Robert, Jädersten, Martin, Germing, Ulrich, Sanz, Guillermo, van de Loosdrecht, Arjan A., Gurnari, Carmelo, Follo, Matilde Yung, Thol, Felicitas, Zamora, Lurdes, Pinheiro, Ronald Feitosa, Pellagatti, Andrea, Elias, Harold K., Haase, Detlef, Sander, Birgitta, Orna, Elisa, Zoldan, Katharina, Eder, Lea Naomi, Sperr, Wolfgang R., Thalhammer, Renate, Ganster, Christina, Adès, Lionel, Tobiasson, Magnus, Palomo, Laura, Della Porta, Matteo Giovanni, Huberman, Kety, Fenaux, Pierre, Belickova, Monika, Savona, Michael R., Klimek, Virginia M., Santos, Fabio P. S., Boultwood, Jacqueline, Kotsianidis, Ioannis, Santini, Valeria, Solé, Francesc, Platzbecker, Uwe, Heuser, Michael, Valent, Peter, Finelli, Carlo, Voso, Maria Teresa, Shih, Lee-Yung, Ogawa, Seishi, Fontenay, Michaela, Jansen, Joop H., Cervera, Jose, Ebert, Benjamin L., Bejar, Rafael, Greenberg, Peter L., Gattermann, Norbert, Malcovati, Luca, Cazzola, Mario, Beck, David B., Hellström-Lindberg, Eva, Papaemmanuil, Elli |
| Zdroj: |
Blood; September 2024, Vol. 144 Issue: 11 p1221-1229, 9p |
| Abstrakt: |
•UBA1mutations were identified in 1% of patients with MDS and 7% of patients lacking myeloid mutations or established disease classification.•Inflammatory clinical presentation and vacuoles were observed in 83% and 71%, respectively, of patients with pathogenic UBA1mutations. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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