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Article

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).

Human mutation - 1 Jan 1994

Tieu P T, Menon K, Neufeld E F

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8019572
DOI: 10.1002/humu.1380030330

Genes

IDUA

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).PMID 8019572Read ↗

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).Semantic proximity Read ↗

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.Semantic proximity Read ↗

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.Semantic proximity Read ↗

Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.Semantic proximity Read ↗

Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.Semantic proximity Read ↗

Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.Semantic proximity Read ↗

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.Semantic proximity Read ↗

Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.Semantic proximity Read ↗

p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.Semantic proximity Read ↗

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.Semantic proximity Read ↗

alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.Semantic proximity Read ↗

Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.Semantic proximity Read ↗

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