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Article

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

Journal of human genetics - 1 Aug 2010

Wang Zheng, Zhang Weimin, Wang Yun, Meng Yan, Su Liang, Shi Huiping, Huang Shangzhi

Abstract excerpt

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disease caused by deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) and transmitted as an autosomal recessive trait. This is the first systematic mutation screen in Chinese MPS IVA patients. Mutation detections in 24 unrelated Chinese MPS IVA patients were performed by PCR and direct sequencing of exons or the mRNA of GALNS. A...

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Source

Identifiers

PMID: 20574428
DOI: 10.1038/jhg.2010.65

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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