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Article

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

Molecular genetics and metabolism - 1 Nov 2011

Bremer Sara, Ohlsson Annika, Brodtkorb Else, Rootwelt Helge, Rootwelt Terje, Woldseth Berit, Mørkrid Lars

Abstract excerpt

Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-l-iduronidase, encoded by the IDUA gene. More than 100 disease causing mutations have been reported in the gene, resulting in a wide range of phenotypes. Here we describe a previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous...

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Source

Identifiers

PMID: 21831683
DOI: 10.1016/j.ymgme.2011.07.012

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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