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[Mutation analysis in Hunter patients].

La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000

Villani G R, Balzano N, Grosso M, Di Natale P

Abstract excerpt

Mutations of the iduronate-2-sulfatase gene have been identified as responsible of Hunter syndrome or mucopolysaccharidosis type II. About 20% of the patients have deletions of the whole gene or other major structural alterations. The mutations found so far include: 34 missense, 8 nonsense, 11 sm...

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PMID: 8685029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8685029-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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[Mutation analysis in Hunter patients].PMID 8685029Read ↗

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

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[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome].Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.Semantic proximity Read ↗

Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.Semantic proximity Read ↗

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

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