Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel <i>SLC3A1</i> Mutation

Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel <i>SLC3A1</i> Mutation

Cystinuria is a genetically inherited disorder of renal and intestinal transport, featured as a high concentration of cystine in the urine. Cumulative cystine in urine would cause the formation of kidney stones, which further leads to renal colic and dysfunction. Gene screens have found that mutatio...

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Bibliographic Details
Main Authors: Lexin Liu, Zihao Xu, Yuelin Guan, Ying Zhang, Xue Li, Yunqing Ren, Lidan Hu, Xiang Yan
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
<i>SLC3A1</i>
cystinuria
cystine stone
genetic mutation
whole exome sequencing
Online Access:https://www.mdpi.com/2073-4425/13/11/2173

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