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[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2004

Zhang Chun-ya, Li Lu-yun, Liu Shang-feng, Fu Jun-jiang, Lu Guang-xiu

Abstract excerpt

OBJECTIVE: To identify the mutations of iduronate-2-sulfatase (IDS) gene in mucopolysaccharidosis type II patients. METHODS: PCR-SSCP analysis was applied to detect the common mutations in the exons 2, 3, 5, 7, 8, 9 in IDS-gene of the patient. DNA sequencing and PCR-RFLP were applied to analyze the mutation detected by PCR-SSCP. RESULTS: A new mutation(1253G-->T) of exon 7 of the IDS gene was found by PCR-SSCP...

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PMID: 15192834

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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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