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Article

Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).

Human genetics - 1 Feb 2005

Chang Jui-Hung, Lin Shuan-Pei, Lin Shu-Chuan, Tseng Kai-Li, Li Chia-Ling, Chuang Chih-Kuang, Lee-Chen Guey-Jen

Abstract excerpt

Nearly 300 different mutations underlying mucopolysaccharidosis type II (MPS II) have been identified worldwide. To investigate the molecular lesions underlying Taiwanese MPS II, probands and families were identified and screened for iduronate-2-sulfatase (IDS) mutation by single-strand conformation polymorphism and DNA sequencing. Five novel and five previously reported mutations were found. Together with those...

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Source

Identifiers

PMID: 15614569
DOI: 10.1007/s00439-004-1234-3

Genes

IDS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).PMID 15614569Read ↗

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