Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PABPN1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PABPN1

Definition : Molecular assay reagents intended to identify mutations in the poly(A)-binding protein, nuclear 1 (PABPN1), gene, located at chromosome 14q11.2-q13, which encodes for a nuclear protein that binds to nascent poly(A) tails. Mutations at this locus have been identified in patients with oculopharyngeal muscular dystrophy.

Entry Terms : "Dystrophy Gene Mutation Reagents" , "Muscular Dystrophy Gene Mutation Reagents" , "Oculopharyngeal Muscular Dystrophy Gene Mutation Reagents" , "PABPN1 Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PABPN1"

UMDC code : 24649

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