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Article

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

Human mutation - 1 Jan 1993

Moskowitz S M, Tieu P T, Neufeld E F

Abstract excerpt

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Topics

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Share to Base Sequence
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Share to DNA Mutational Analysis
Share to Iduronidase

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

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Share to Mucopolysaccharidosis I

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Source

Identifiers

PMID: 8318992
DOI: 10.1002/humu.1380020215

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

Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.PMID 8318992Read ↗

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.Semantic proximity Read ↗

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.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 ↗

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.Semantic proximity Read ↗

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

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistrySemantic proximity Read ↗

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

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 ↗

IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.Semantic proximity Read ↗

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.Semantic proximity Read ↗

Mucopolysaccharidosis type II: an update on mutation spectrum.Semantic proximity Read ↗

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.Semantic proximity Read ↗

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