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Article

Cystinuria: an inborn cause of urolithiasis.

Orphanet journal of rare diseases - 5 Apr 2012

Eggermann Thomas, Venghaus Andreas, Zerres Klaus

Abstract excerpt

Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy subunit rBAT of a...

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Identifiers

PMID: 22480232
DOI: 10.1186/1750-1172-7-19
PMCID: PMC3464901

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PREPL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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