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Article

Worldwide distribution of common IDUA pathogenic variants.

Clinical genetics - 1 Jul 2018

Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G

Abstract excerpt

Mucopolysaccharidosis type I (MPS I) is a rare disorder caused by deleterious sequence variants in the α-L-iduronidase (IDUA) gene. More than 200 pathogenic variants have been described so far, but their frequencies have not yet been analyzed on a worldwide scale. To address this, we analyzed the genotypes of MPS I patients from 35 published studies papers. The most common pathogenic variant observed was...

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Source

Identifiers

PMID: 29393969
DOI: 10.1111/cge.13224

Genes

IDUA

Variants

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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