Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Disorder, Trinucleotide Repeats, GCG, PABPN1 Gene

IVD Test Reagent/Kits, Molecular Assay, Gene Disorder, Trinucleotide Repeats, GCG, PABPN1 Gene

Definition : Molecular assay reagents intended to identify GCG repeats in the poly(A) binding protein, nuclear 1 (PABPN1) gene, located at chromosome 14q11.2-q13. Normal alleles have 6 or 7 CGC trinucleotide repeats. A variation from the expected number of normal CGC trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with 8 to 13 GCG trinucleotide repeats are associated with oculopharyngeal muscular dystrophy.

Entry Terms : "Oculopharyngeal Muscular Dystrophy (OPMD) Gene Mutation Reagents" , "Dystrophy Gene Mutation Reagents" , "Muscular Dystrophy Gene Mutation Reagents" , "PABPN1 Gene Mutation Detection Reagents, GCG Trinucleotide Repeats" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Disorder, Trinucleotide Repeats, GCG, PABPN1 Gene"

UMDC code : 25047

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