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Article

[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017

Li Yiying, Mei Shiyue, Kong Xiangdong, Zhao Zhenhua, Zhu Xiaofan, Yang Xinyu, Qin Zhi, Wu Han

Abstract excerpt

OBJECTIVE: To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ). METHODS: For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing. RESULTS: A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous....

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Source

Identifiers

PMID: 28186595
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.013

Genes

IDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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