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Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 Mutation.

Genes - 21 Nov 2022

Liu Lexin, Xu Zihao, Guan Yuelin, Zhang Ying, Li Xue, Ren Yunqing, Hu Lidan, Yan Xiang

Abstract excerpt

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 mutations in SLC3A1 or SLC7A9 gene are responsible for most cases of cystinuria, for encoding defective cystine...

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Identifiers

PMID: 36421847
DOI: 10.3390/genes13112173
PMCID: PMC9690416

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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