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Article

[Identification of a novel mutation of IDS gene from a Chinese pedigree with MPS II].

Yi chuan = Hereditas - 1 Nov 2009

GUO Yi-Bin, PAN Hong-Da, GUO Chun-Miao, LI Yong-Mei, CHEN Lu-Ming

Abstract excerpt

The purpose of this study was to understand the molecular genetic mechanism of mucopolysaccharidosis type II (MPS II) and to provide a prerequisite for future prenatal gene diagnosis. A preliminary diagnosis was made by qualitative detection of Urinary Glycosaminoglycans of the suspected MPS II proband. Then, mutation detection was performed on the proband and his family members with PCR and direct sequencing of...

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Source

Identifiers

PMID: 19933090
DOI: 10.3724/sp.j.1005.2009.01101

Genes

IDS

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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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