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Article

A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.

Journal of Zhejiang University. Science. B - 1 Aug 2007

Guo Yi-bin, Pan Jing-xin, Meng Ya-xian

Abstract excerpt

OBJECTIVE: To identify the mutations of iduronate-2-sulfatase (IDS) gene, to reveal its mutation features, and to establish a basis for genetic counseling and prenatal gene diagnosis of Hunter syndrome. METHODS: Urine glycosaminoglycans (GAGs) assay, PCR and DNA sequencing were performed to detect mutation of IDS gene of the patient and his parents. RESULTS: The result showed that the patient was: DS(++), HS(++),...

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Identifiers

PMID: 17657858
DOI: 10.1631/jzus.2007.B0566
PMCID: PMC1934951

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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A new mutation (1062 del 16) of iduronate-2-sulfatase gene from a Chinese patient with Hunter syndrome.PMID 17657858Read ↗

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Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.Semantic proximity Read ↗

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