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

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

23 Dec 2019

Abstract excerpt

Hunter syndrome (mucopolysaccharidosis II; MPS II) is caused by a defect of the iduronate-2-sulfatase (IDS) gene. Few studies have reported integrated mutation data of Taiwanese MPS II phenotypes. In this study, we summarized genotype and phenotype correlations of confirmed MPS II patients and asymptomatic MPS II infants in Taiwan. Regular polymerase chain reaction and DNA sequencing were used to identify genetic...

Read the complete abstract on PubMed

Topics

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

Share to Glycogen Storage Diseases and Myoclonus
Share to Lysosomal Storage Disorders Research
Share to Trypanosoma species research and implications

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31877959
DOI: 10.3390/ijms21010114

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)PMID 31877959Read ↗

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

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.Semantic proximity Read ↗

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

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 ↗

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).Semantic proximity Read ↗

Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.Semantic proximity Read ↗

Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.Semantic proximity Read ↗

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

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.Semantic proximity Read ↗

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.Semantic proximity Read ↗

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

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