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Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

Human molecular genetics - 1 Dec 1992

Crotty P L, Braun S E, Anderson R A, Whitley C B

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

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Identifiers

PMID: 1284597
DOI: 10.1093/hmg/1.9.755

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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

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Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.PMID 1284597Read ↗

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).Semantic proximity Read ↗

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

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.Semantic proximity Read ↗

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.Semantic proximity Read ↗

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).Semantic proximity Read ↗

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

Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts.Semantic proximity Read ↗

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.Semantic proximity Read ↗

A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient 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 ↗

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

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