Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

BackgroundCystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU). The mutated SLC3A1 and SLC7A9 genes are the cause of CU, a gl...

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Bibliographic Details
Main Authors: Chuangye Li, Yongjia Yang, Yu Zheng, Fang Shen, Li Liu, Yanfang Li, Liping Li, Yaowang Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
cystine urolithiasis
SLC3A1
SLC7A9
pathogenic variants
Chinese population
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00074/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00074/full

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