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Article

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

Human mutation - 1 Jan 1999

Vallance H D, Bernard L, Rashed M, Chiu D, Le G, Toone J, Applegarth D A, Coulter-Mackie M

Abstract excerpt

Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype/phenotype relationships and offer carrier testing where required. Six novel mutations were identified: four missense...

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

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Source

Identifiers

PMID: 10220152
DOI: 10.1002/(sici)1098-1004(1999)13:4<338::aid-humu15>3.0.co;2-3

Genes

IDS

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.PMID 10220152Read ↗

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Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.Semantic proximity Read ↗

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