IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PEX7
Definition : 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).
Entry Terms : "Refsum-Like Disease Gene Mutation Reagents" , "Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1) Gene Mutation Reagents" , "Congenital Cataracts Gene Mutation Reagents" , "PEX7 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PEX7"
UMDC code : 24662