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Article

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.

European journal of human genetics : EJHG - 1 Jan 1995

Bondeson M L, Malmgren H, Dahl N, Carlberg B M, Pettersson U

Abstract excerpt

A deficiency of the enzyme iduronate-2-sulfatase (IDS) is the cause of Hunter syndrome (mucopolysaccharidosis type II). Here, we report a study of the human IDS locus at Xq28. An unexpected finding was an IDS-related region (IDS2) which is located on the telomeric side of the IDS gene within 80 k...

Topics

Base Sequence
Chromosome Mapping
DNA
DNA Mutational Analysis
Exons
Humans
Iduronate Sulfatase
Molecular Sequence Data
Mucopolysaccharidosis II
Mutation
Telomere
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8528670
DOI: 10.1159/000472302

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8528670-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.PMID 8528670Read ↗

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.Semantic proximity Read ↗

Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Semantic proximity Read ↗

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.Semantic proximity Read ↗

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic SplicingSemantic proximity Read ↗

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.Semantic proximity Read ↗

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.Semantic proximity Read ↗

Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.Semantic proximity Read ↗

Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.Semantic proximity Read ↗

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.Semantic proximity Read ↗

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.Semantic proximity Read ↗

Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.Semantic proximity Read ↗

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