IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, UROD
Definition : Molecular assay reagents intended to identify mutations in the uroporphyrinogen decarboxylase (UROD) gene, located at chromosome 1p34.1, which encodes for an enzyme that is responsible for one step in the heme biosynthetic pathway. This inherited genetic mutation has been identified in patients with familial porphyria cutanea tarda (PCT), also known as porphyria cutanea tarda type II.
Entry Terms : "Late Onset Porphyria Cutanea Gene Mutation Reagents" , "Porphyria Cutanea Tarda (PCT) Type 2 Gene Mutation Reagents" , "Familial Porphyria Cutanea Tarda Gene Mutation Reagents" , "UROD Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, UROD"
UMDC code : 25006