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Article

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

American journal of human genetics - 1 Mar 2008

Kloeckener-Gruissem Barbara, Vandekerckhove Kristof, Nürnberg Gudrun, Neidhardt John, Zeitz Christina, Nürnberg Peter, Schipper Isaak, Berger Wolfgang

Abstract excerpt

Unobstructed vision requires a particular refractive index of the lens, a measure based on the organization of the structural proteins within the differentiated lens cells. To ensure an intact lens structure, homeostasis within the lens cells is indispensable. Alterations of the lens structure result in opacity and lead to cataract. Renal glucosuria is defined by elevated glucose level in the urine without...

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Identifiers

PMID: 18304496
DOI: 10.1016/j.ajhg.2007.12.013
PMCID: PMC2427214

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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