胱氨酸尿症相关基因SLC3A1与SLC7A9突变与药物研究进展
泌尿外科杂志(电子版)
页数: 6 2024-09-27
摘要: 胱氨酸尿症(cystinuria,CSNU)是临床少见遗传病,由溶质载体家族3成员1 (solute carrier family3 member 1,SLC3A1)和溶质载体家族7成员9 (solute carrier family 7 member 9,SLC7A9)两个基因突变导致。CSNU患者基因突变及基因分型一直备受临床关注,本文针对CSNU相关基因SLC3A1和SL... (共6页)