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>...

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Detalles Bibliográficos
Autores principales: Mardi, Ali, Heidary, Hamed, Mousavi, Seyyed Mohammad, Khazaei, Ghasem, Taghizadeh, Eskandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2021
Materias:
Case Report
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

Internet

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

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