Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria

Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms b...

Source: BMC Medical Genomics - December 19, 2023 Category: Genetics & Stem Cells Authors: Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo and Changbao Xu Tags: Research Source Type: research