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

• Main Authors: Danhua Liu (Author), Yongli Zhao (Author), Xia Xue (Author), Xinyue Hou (Author), Hongen Xu (Author), Xinghua Zhao (Author), Yongan Tian (Author), Wenxue Tang (Author), Jiancheng Guo (Author), Changbao Xu (Author)
• Format: Book
• Published: BMC, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 based on the genotype: type A, due to mutations in the SLC3A1 gene; t...