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Article

Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.

Proceedings of the National Academy of Sciences of the United States of America - 6 Aug 1996

Evers M, Saftig P, Schmidt P, Hafner A, McLoghlin D B, Schmahl W, Hess B, von Figura K, Peters C

Abstract excerpt

Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the enzyme arylsulfatase B (ASB), which is involved in degradation of dermatan sulfate and chondroitin 4-sulfate. A MPS VI mouse model was generated by targeted disruption of the ASB gene. Homozygous mutant animals exhibit ASB enzyme deficiency and elevated urinary secretion of dermatan...

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Identifiers

PMID: 8710849
DOI: 10.1073/pnas.93.16.8214
PMCID: PMC38649

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