PDE1A polymorphism contributes to the susceptibility of nephrolithiasis
收藏NIAID Data Ecosystem2026-03-10 收录
下载链接：
https://figshare.com/articles/dataset/PDE1A_polymorphism_contributes_to_the_susceptibility_of_nephrolithiasis/4564819
下载链接
链接失效反馈官方服务：
资源简介：
We here provide evidence
for a monogenic cause of nephrolithiasis, or kidney stones, based on an
association of a polymorphism in the PDE1A
gene. This variant was detected through whole-exome analysis of ten members of
an affected family, as well as a case–control study of a validation cohort
including over 2000 patients at our hospital.
创建时间：
2017-01-19
