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

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

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...

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Bibliographic Details
Main Authors: Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo, Changbao Xu
Format: Article
Language:English
Published: BMC 2023-12-01
Series:BMC Medical Genomics
Subjects:
SLC3A1
Cystinuria
Novel variants
NGS
The Chinese population
Online Access:https://doi.org/10.1186/s12920-023-01767-6

Internet

https://doi.org/10.1186/s12920-023-01767-6

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