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Article

[Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2011

Zhao Yan, Meng Ya-xian, Guo Yi-bin, Du Min-lian, Ai Yang

Abstract excerpt

OBJECTIVE: To study the molecular genetic mechanism of mucopolysaccharidosis type IV A(MPS IV A), and reveal the relationship between the genotype and phenotype, and provide a basis for prenatal gene diagnosis in the future. METHODS: A preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS IV A proband. Then, mutation detection was performed on the proband and...

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Identifiers

PMID: 21644215
DOI: 10.3760/cma.j.issn.1003-9406.2011.03.001

Genes

GALNS

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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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