Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing
揭示VHL外显子2突变对红细胞增多症或von Hippel-Lindau病的影响,发现了参与VHL剪接的RNA结合蛋白。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.09.002
Karaghiannis, Valéna; Schmitt, Loïc; Chesnel, Franck; Gautier, Emilie-Fleur; Leduc, Marjorie; Le Gall, Morgane; Idriss, Salam; Couvé, Sophie; Barlier, Anne; Sarrabay, Guillaume; Maaziz, Nada; Cassinat, Bruno; Legros, Laurence; Thibaud, Vincent; Richard, Stéphane; Girodon, François; Miro, Julie; Tuffery-Giraud, Sylvie; Arlot, Yannick; Gardie, Betty