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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Hauptverfasser:	Chuangye Li, Yongjia Yang, Yu Zheng, Fang Shen, Li Liu, Yanfang Li, Liping Li, Yaowang Zhao
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2020-02-01
Schriftenreihe:	Frontiers in Genetics
Schlagworte:	cystine urolithiasis SLC3A1 SLC7A9 pathogenic variants Chinese population
Online-Zugang:	https://www.frontiersin.org/article/10.3389/fgene.2020.00074/full
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