Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)
西班牙肾性低尿酸血症患者的 SLC22A12(URAT1)和 SLC2A9(GLUT9)致病变异:SLC2A9 变异 c.374C>T 的创始效应;p.(T125M)
期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms24098455
Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin; RenalTube