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Article

Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.

Iranian biomedical journal - 1 Jan 2012

Nouri Nayerossadat, Nouri Nargesossadat, Aryani Omid, Kamalidehghan Behnam, Houshmand Massoud

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. METHODS: After PCR and...

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Identifiers

PMID: 23023219
DOI: 10.6091/ibj.1049.2012
PMCID: PMC3629929

Genes

ARSB

Variants

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Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.PMID 23023219Read ↗

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

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