Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants
211名无关墨西哥患者ABCA4相关视网膜变性的基因型谱:鉴定出22个新的致病变异
期刊:Molecular Genetics and Genomics
影响因子:2.1
doi:10.1007/s00438-024-02174-x
Chacon-Camacho, Oscar F; Xilotl-de Jesús, Nancy; Calderón-Martínez, Ernesto; Ordoñez-Labastida, Vianey; Neria-Gonzalez, M Isabel; Villafuerte-de la Cruz, Rocío; Martinez-Rojas, Augusto; Zenteno, Juan Carlos