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Article

Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

Genetic testing and molecular biomarkers - 1 Jan 2017

Ittiwut Chupong, Boonbuamas Sukanya, Srichomthong Chalurmpon, Ittiwut Rungnapa, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare autosomal recessive lysosomal storage disease, is caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, or ARSB) gene, resulting in a deficiency of ARSB activity. This study aimed to characterize the clinical and molecular features of four unrelated Thai patients with MPS VI. Two were products of...

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Source

Identifiers

PMID: 27797586
DOI: 10.1089/gtmb.2016.0221

Genes

ARSB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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