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Article

A Novel Mutation in SLC7A9 Gene in Cystinuria.

Iranian journal of kidney diseases - 1 Mar 2017

Fazaeli Saeedeh, Ashouri Saeideh, Kheirollahi Majid, Mohammadi Mehrdad, Fazilati Mohammad

Abstract excerpt

INTRODUCTION: Cystinuria is an inherited disorder affecting luminal transport of cystine and dibasic amino acids. Because of the poor solubility of cystine in urine, stone formation in the kidney occurs frequently. Cystinuria is associated with mutations in the SLC3A1 and SLC7A9 genes. Despite the population-specific distribution of mutations in the SLC7A9 genes, there are few genetic data reported for cystinuric...

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PMID: 28270646

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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