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Article

A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.

Chinese medical journal - 1 Dec 2004

Lam Ching-wan, Chan Angel On-kei, Lai Chi-kong, Chan Wai-hung, Chan Yan-wo, Shek Chi-chung, Tong Sui-fan

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Identifiers

PMID: 15603718

Genes

ARSB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.PMID 15603718Read ↗

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Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.Semantic proximity Read ↗

Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity.Semantic proximity Read ↗

A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosisSemantic proximity Read ↗

Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.Semantic proximity Read ↗

[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].Semantic proximity Read ↗

Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.Semantic proximity Read ↗

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