Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis
对巴基斯坦结石患者的CaSR基因座进行测序,发现了一种新的功能缺失变异,该变异与肾结石异常相关。
期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-021-01116-5
Ullah, Ihsan; Ottlewski, Isabel; Shehzad, Wasim; Riaz, Amjad; Ijaz, Sadaqat; Tufail, Asad; Ammara, Hafiza; Mane, Shrikant; Shril, Shirlee; Hildebrandt, Friedhelm; Zahoor, Muhammad Yasir; Majmundar, Amar J