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

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

Definition : Molecular assay reagents intended to identify mutations in the fukutin-related protein (FKRP) gene, located at chromosome 19q13.3, which possibly encodes for a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG-1). Mutations at this locus have been identified in patients with early-onset (neonatal) congenital muscular dystrophy type 1C (MDC1C) and type 21 (LDMG21).

Entry Terms : "Merosin-Deficient Congenital Muscular Dystrophy Gene Mutation Detection Reagents" , "Merosin-Deficient Muscular Dystrophy Gene Mutation Detection Reagents" , "Congenital Muscular Dystrophy Gene Mutation Detection Reagents" , "Muscular Dystrophy Gene Mutation Detection Reagents" , "Muscular Dystrophy Diagnostic Reagents" , "FKRP Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Muscular Dystrophy Determination Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, FKRP"

UMDC code : 24431

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