Defective ARSB does not hydrolyse DS - Wikidata - awgldk - TriplyDB

Defective ARSB does not hydrolyse DS

Defective ARSB does not hydrolyse DS

http://www.wikidata.org/entity/Q55214592

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MPS VI - Maroteaux-Lamy syndrome

P527

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P527

Defective ARSB does not hydrolyse DS

http://www.wikidata.org/entity/Q55214592

description

An instance of the biological ...... t hydrolyse DS in Homo sapiens

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biologisch proces

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name

Defective ARSB does not hydrolyse DS

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type

label

Defective ARSB does not hydrolyse DS

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prefLabel

Defective ARSB does not hydrolyse DS

@en

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Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

Maroteaux-lamy syndrome: five novel mutations and their structural localization.

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reactome:R-HSA-9036065

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biological process

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MPS VI - Maroteaux-Lamy syndrome

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R-HSA-9036065

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