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Reagents, Molecular Assay, Gene Anomaly, Mutation, ARSA

Definition : Molecular assay reagents intended to identify mutations in the arylsulfatase A (ARSA) gene, located at chromosome 22q13.33, which encodes for the enzyme lysosomal arylsulfatase A that hydrolyzes ester bonds in cerebroside sulfates. Mutations at this locus have been identified in patients with metachromatic leukodystrophy (MLD) and multiple sulfatase deficiency (MSD).

Entry Terms : "Leukodystrophy Gene Mutation Detection Reagents" , "Metachromatic Leukodystrophy Gene Mutation Detection Reagents" , "Cerebroside Sulfatase Deficiency Gene Mutation Detection Reagents" , "ARSA Gene Mutation Detection Reagents"

UMDC code : 24299

   

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