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Article

A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.

Clinica chimica acta; international journal of clinical chemistry - 20 Nov 2011

Wei Xiaoming, Jin Fan, Ye Yinghui, Xu Chenming, Qu Ning, Ju Xiangchun, Yi Xin

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis (MPS) is induced by the absence or malfunctioning of lysosomal enzymes. MPS I and MPS II are similar in phenotypes but they are different in genotypes, which are caused by the deficiencies of alpha-L-iduronidase gene (IDUA) and iduronate 2-sulfatase gene (IDS) respectively. In this work, a 5-year-old Chinese young male with manifestations of MPS in a family with unaffected...

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Source

Identifiers

PMID: 21910981
DOI: 10.1016/j.cca.2011.08.031

Genes

IDS
IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.PMID 21910981Read ↗

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