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Cystinuria in a patient with a novel mutation in SLC7A9 gene.

Iranian journal of kidney diseases - 1 Jan 2015

Koulivand Leila, Mohammadi Mehrdad, Ezatpour Behrouz, Kheirollahi Majid

Abstract excerpt

Cystinuria, one of the first inborn errors of metabolism, is characterized by hyperexcretion of cystine, arginine, lysine, and ornithine into urine. Cystinuria is genetically classified into types A and B. Mutations in the SLC3A1 gene lead to type A, and type B is caused by mutations in the SLC7A...

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PMID: 25599739

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25599739-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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