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Genetic mutation of SLC6A20 (c.1072T > C) in a family with nephrolithiasis: A case report
Nephrolithiasis is a highly prevalent disease worldwide that is associated with significant suffering, renal failure, and cost for the healthcare system. A patient with nephrolithiasis was found to have SLC6A20 variation. SLC6A20 gene in human is located on chromosome 3p21.3, which is a member of SL...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
De Gruyter
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938640/ https://www.ncbi.nlm.nih.gov/pubmed/36820062 http://dx.doi.org/10.1515/med-2023-0648 |