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

Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

1 Feb 1998

Abstract excerpt

Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty-five different small mutations have been characterized. Small mutations in the Japanese population are widely distributed through the IDS gene, although some mutations were unevenly concentrated on exon 5 (28%)...

Read the complete abstract on PubMed

Topics

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

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Trypanosoma species research and implications

Source

Identifiers

PMID: 9501270
DOI: 10.1023/a:1005363414792

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)PMID 9501270Read ↗

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

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

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

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

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

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.Semantic proximity Read ↗

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).Semantic proximity Read ↗

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)Semantic proximity Read ↗

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

Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.Semantic proximity Read ↗

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

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