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Article

Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.

Journal of human genetics - 1 Apr 2012

Saito Seiji, Ohno Kazuki, Sekijima Masakazu, Suzuki Toshihiro, Sakuraba Hitoshi

Abstract excerpt

Mucopolysaccharidosis type VI (MPS VI) is a genetic disorder caused by a deficiency of arylsulfatase B (ARSB). In our previous study, we investigated the structural changes in ARSB caused by amino acid substitutions associated with MPS VI, and revealed that such structural changes in ARSB were correlated with the clinical phenotypes. To the best of our knowledge, there is no database containing the structures of...

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Identifiers

PMID: 22336888
DOI: 10.1038/jhg.2012.6

Genes

ARSB

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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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