TY  - GEN 
AU  - Martínez Navajas, Gonzalo
AU  - Ceron-Hernandez, Jorge
AU  - Simon, Iris
AU  - Lupiañez, Pablo
AU  - Diaz-McLynn, Sofia
AU  - Perales, Sonia
AU  - Modlich, Ute
AU  - Guerrero, José Antonio
AU  - Martin, Francisco
AU  - Sevivas, Teresa
AU  - Lozano, María Luisa
AU  - Rivera, Jose
AU  - Ramos Mejía, Verónica
AU  - Tersteeg, Claudia
AU  - Real Luna, Pedro José
PY  - 2023
UR  - https://hdl.handle.net/10481/99837
AB  - Bernard-Soulier syndrome (BSS) is a rare congenital disease characterized by macrothrombocytopenia and frequent bleeding. It is caused by pathogenic variants in three genes (GP1BA, GP1BB, or GP9) that encode for the GPIbα, GPIbβ, and GPIX subunits of...
LA  - eng
KW  - RNA/DNA editing
KW  - Bernard-Soulier Syndrome
KW  - Gene therapy
KW  - GP9
KW  - Hematopoietic stem cells
KW  - Disease models
KW  - Induced pluripotent stem cells
KW  - Lentiviral vector
KW  - CRISPR-Cas9
KW  - GPIb-V-IX receptor
KW  - von Willebrand factor
KW  - Edición génica
KW  - Síndrome de Bernard-Soulier
KW  - Terapia génica
KW  - Células madre hematopoyéticas
KW  - Modelos de enfermedad
KW  - Células madre pluripotentes
KW  - Vector lentiviral
TI  - Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C
DO  - 10.1016/j.omtn.2023.06.008
ER  -