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[Mutation analysis of mucopolysaccharidosis type II and prenatal diagnosis].

Zhonghua fu chan ke za zhi - 1 Jun 2014

Liu Ning, Shi Huirong, Kong Xiangdong, Wu Qinghua, Jiang Miao

Abstract excerpt

OBJECTIVE: To analyze the mutations of IDS gene in a mucopolysaccharidosis type II (MPSII) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks. METHODS: IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother, and 5 unaffected individuals. Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the...

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Source

Identifiers

PMID: 25169630

Genes

IDS

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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