PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development
PKD1 5'UTR变异是ADPKD中一种罕见的致病因素,提示了治疗研发的新方向。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01949-z
Wedd, Laura; Hort, Yvonne; Patel, Chirag; Sayer, John A; Rius, Rocio; Mallett, Andrew J; Cottle, Denny L; Smyth, Ian M; Furlong, Timothy; Shine, John; Mallawaarachchi, Amali