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Article

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Human genetics - 1 Feb 1996

Olsen T C, Eiken H G, Knappskog P M, Kase B F, Månsson J E, Boman H, Apold J

Abstract excerpt

We have identified the mutations in the iduronate-2-sulfatase (IDS) gene of five unrelated Norwegians with Hunter syndrome by reverse transcription-polymerase chain reaction (RT-PCR) analysis of IDS mRNA followed by single strand conformation polymorphism (SSCP) analysis and cDNA sequencing. One patient had a 5-bp deletion, located at the intron 5/exon 6 junction, that created a new alternative splice site. This...

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Source

Identifiers

PMID: 8566953
DOI: 10.1007/BF02265265

Genes

IDS

Variants

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.

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Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.PMID 8566953Read ↗

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

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