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Article

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

Human mutation - 1 Jan 1993

Moskowitz S M, Tieu P T, Neufeld E F

Abstract excerpt

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

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Source

Identifiers

PMID: 8477267
DOI: 10.1002/humu.1380020113

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).PMID 8477267Read ↗

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

Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.Semantic proximity Read ↗

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

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.Semantic proximity Read ↗

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.Semantic proximity Read ↗

Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.Semantic proximity Read ↗

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

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.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 p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.Semantic proximity Read ↗

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

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.Semantic proximity Read ↗

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