A Novel Variant in Iranian Patient with Cystinuria: A Case Report
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DOI: 10.18502/ijph.v50i9.7063
Abstract: 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… read more here.
Keywords: iranian patient; patient cystinuria; novel variant; cystinuria case ... See more keywords