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Article

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Human molecular genetics - 12 Oct 2000

Sun M, Goldin E, Stahl S, Falardeau J L, Kennedy J C, Acierno J S, Bove C, Kaneski C R, Nagle J, Bromley M C, Colman M, Schiffmann R, Slaugenhaupt S A

Abstract excerpt

Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities. The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. Here we report the cloning of a novel transient r...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11030752
DOI: 10.1093/hmg/9.17.2471

Genes

MCOLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11030752-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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