Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, BEST1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, BEST1

Definition : Molecular assay reagents intended to identify mutations in the vitelliform macular dystrophy protein 2 (Best disease, bestrophin) (BEST1) (formerly VMD2) gene, located at chromosome 11q13, which encodes for a protein whose exact function is not known but that appears to be critical to normal vision. This inherited genetic mutation has been identified in patients with vitelliform macular dystrophy type 2.

Entry Terms : "VMD2 Gene Mutation Detection Reagents" , "BEST1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, BEST1"

UMDC code : 25009

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