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Article

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

American journal of human genetics - 1 Apr 2002

Edelmann Lisa, Dong Jianli, Desnick Robert J, Kornreich Ruth

Abstract excerpt

Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder. Approximately 80% of patients with MLIV are of Ashkenazi Jewish (AJ) descent, and two mutations, IVS3-2A-->G and 511del6434, account for >95% of the mutant alleles in this population. To determine the carrier frequencies of these two mutations, 2,029 anonymous, unrelated,...

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Identifiers

PMID: 11845410
DOI: 10.1086/339519
PMCID: PMC379096

Genes

MCOLN1

Provenance

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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