Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel SLC3A1 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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Detalles Bibliográficos
Autores principales: Liu, Lexin, Xu, Zihao, Guan, Yuelin, Zhang, Ying, Li, Xue, Ren, Yunqing, Hu, Lidan, Yan, Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690416/
https://www.ncbi.nlm.nih.gov/pubmed/36421847
http://dx.doi.org/10.3390/genes13112173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690416/
https://www.ncbi.nlm.nih.gov/pubmed/36421847
http://dx.doi.org/10.3390/genes13112173

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