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IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, MAN2B1

Definition : Molecular assay reagents intended to identify mutations in the mannosidase, alpha, class 2B, member 1 (MAN2B1) gene, located at chromosome 19cen-q12, which encodes for an alpha-mannosidase enzyme that works in lysosomes. Within the lysosome, the enzyme breaks down oligosaccharides attached to glycoproteins. Mutations at this locus have been identified in patients with alpha mannosidosis (lysosomal alpha-D-mannosidase deficiency).

Entry Terms : "Lysosomal Alpha-D-Mannosidase Deficiency Gene Mutation Reagents" , "Alpha Mannosidosis Gene Mutation Reagents" , "MAN2B1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, MAN2B1"

UMDC code : 24598

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