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Article

Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).

Human genetics - 1 Nov 1992

Crotty P L, Whitley C B

Abstract excerpt

Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 k...

Topics

Base Sequence
Blotting, Southern
Child
Child, Preschool
DNA
Gene Deletion
Humans
Iduronate Sulfatase
Infant
Molecular Sequence Data
Mucopolysaccharidosis II
Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA, Messenger

RNA-Directed DNA Polymerase

Source

Identifiers

PMID: 1283150
DOI: 10.1007/BF00220080

Genes

IDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1283150-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).PMID 1283150Read ↗

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.Semantic proximity Read ↗

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

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (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 of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.Semantic proximity Read ↗

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.Semantic proximity Read ↗

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

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

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

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.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 ↗

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