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A Novel Variant in Iranian Patient with Cystinuria: A Case Report
Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1. In this study, we describe a disease that has a new c.916A>...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Tehran University of Medical Sciences
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542809/ https://www.ncbi.nlm.nih.gov/pubmed/34722386 http://dx.doi.org/10.18502/ijph.v50i9.7063 |