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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| 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 |