Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PRPH2

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PRPH2

Definition : Molecular assay reagents intended to identify mutations in the peripherin 2 (retinal degeneration, slow) (PRPH2) (formerly RDS) gene, located at chromosome 6p21.2-p12.3, which encodes for a protein that mediates signal transduction events involved in photoreceptor disk morphogenesis. This genetic mutation has been identified in patients with autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy, and digenic retinitis pigmentosa.

Entry Terms : "Rapadillino Syndrome Gene Mutation Reagents" , "Rothmund Thomson Syndrome Gene Mutation Reagents" , "Retinitis Pigmentosa Type 7 (RP7) Gene Mutation Reagents" , "RDS Gene Mutation Detection Reagents" , "PRPH2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PRPH2"

UMDC code : 24935

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BioRich Medical

Company Type: Parent

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