IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, FSHMD1A
Definition : Molecular assay reagents intended to identify deletions in the facioscapulohumeral muscular dystrophy-1A (FSHMD1A) gene, located in 4q35, which may have a role in the processing of pre-rRNA (ribosomal RNA) or in the assembly of rRNA ribosomal subunits. It is expressed in adult muscle and lymphocytes and also in fetal muscle, brain tissue, and placenta. Inherited genetic deletions are present in most patients with facioscapulohumeral muscular dystrophy type 1A.
Entry Terms : "Landouzy-Dejerine Muscular Dystrophy Diagnostic Reagents" , "Facioscapulohumeral Muscular Dystrophy Type 1A (FSHMD1A) Diagnostic Reagents" , "Muscular Dystrophy Gene Deletion Reagents" , "Muscular Dystrophy Diagnostic Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "FSHMD1A Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, FSHMD1A"
UMDC code : 24179