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Article

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.

Investigative ophthalmology & visual science - 1 Jul 2008

Goldin Ehud, Caruso Rafael C, Benko William, Kaneski Christine R, Stahl Stephanie, Schiffmann Raphael

Abstract excerpt

PURPOSE: To evaluate a 15-year-old boy with MLIV (mucolipidosis type IV) and clinical abnormalities restricted to the eye who also had achlorhydria with elevated blood gastrin levels. METHODS: In addition to a detailed neuro-ophthalmic and electrophysiological assessment, his mutant mucolipin-1 w...

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Source

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Identifiers

PMID: 18326692
DOI: 10.1167/iovs.07-1649
PMCID: PMC5267708

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18326692-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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