A Novel Variant in Iranian Patient with Cystinuria: A Case Report

• Hoofdauteurs: Ali Mardi (Auteur), Hamed Heidary (Auteur), Seyyed Mohammad Mousavi (Auteur), Ghasem Khazaei (Auteur), Eskandar Taghizadeh (Auteur)
• Formaat: Boek
• Gepubliceerd in: Tehran University of Medical Sciences, 2021-09-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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>...