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Molecular assay reagents intended to identify mutations in the peroxisomal biogenesis factor 7 (PEX7) gene, located at chromosome 6q21-q22.2, which encodes for a protein involved in import of peroxisomal matrix proteins. Mutations at this locus have been identified in patients with Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).
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