Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.

Human molecular genetics - 1 Jun 1992

Steén-Bondeson M L, Dahl N, Tönnesen T, Kleijer W J, Seidlitz G, Gustavson K H, Wilson P J, Morris C P, Hopwood J J, Pettersson U

Abstract excerpt

Hunter syndrome or mucopolysaccharidoses type II (MPS-II), is a lysosomal storage disorder caused by a deficiency in the activity of the enzyme iduronate-2-sulphatase (IDS). We have investigated the occurrence of rearrangements and deletions of the IDS gene in a Southern analysis of 46 unrelated MPS-II patients of different ethnic origins using a cDNA clone containing the entire IDS gene as a probe. Structural...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blotting, Southern
Share to DNA Mutational Analysis

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

Share to DNA Probes

Share to Gene Rearrangement

Share to Pedigree

Share to Phenotype

Share to Sequence Deletion

Share to X Chromosome

Source

Identifiers

PMID: 1303177
DOI: 10.1093/hmg/1.3.195

Genes

IDS

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

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.PMID 1303177Read ↗

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)Semantic proximity Read ↗

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.Semantic proximity Read ↗

Hunter disease in the Spanish population: molecular analysis in 31 families.Semantic proximity Read ↗

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

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).Semantic proximity Read ↗

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Semantic proximity Read ↗

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).Semantic proximity Read ↗

Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?Semantic proximity Read ↗

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.