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  • Molecular assay reagents intended to identify mutations in the phosphomannomutase 2 (PMM2) gene, located at chromosome 16p13.2, which encodes for phosphomannomutase 2, an enzyme necessary for the synthesis of GDP-mannose. Mutations at this locus have been identified in patients with a congenital disorder of glycosylation type 1A caused by a phosphomannomutase deficiency.
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