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Article

[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].

Yi chuan = Hereditas - 1 Jan 2007

Dou Wei, Peng Chao, Zheng Jun-Ke, Gu Xue-Fan

Abstract excerpt

In the present study, through PCR amplification and direct sequencing of mutation "hotspots", we were able to identify two novel mutations in the human iduronate-2-sulfatase (IDS) gene in two patients from unrelated families with mucopolysaccharidosis type II(MPS II). The novel mutation IVS 6 -1g-->a affected the 3' splice acceptor site of intron 6, and was predicted to result in exon skipping. The novel mutation...

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Source

Identifiers

PMID: 17284421
DOI: 10.1360/yc-007-0037

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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