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  • Molecular assay reagents intended to identify mutations in the peroxisomal biogenesis factor 12 (PEX12) gene, located at chromosome 17q12, which encodes for a protein involved in import of peroxisomal matrix proteins. Mutations at this locus have been identified in patients with early-onset Zellweger syndrome spectrum, a continuum of peroxisome biogenesis disorders that include three well-differentiated forms, from severe to mild.
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