IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GPR143
Definition : Molecular assay reagents intended to identify mutations in the ocular albinism GPR143 (formerly OA1) gene, located at chromosome Xp22.3, which encodes for a protein that is involved in the coloring (pigmentation) of the eyes and skin. Mutations at this locus have been identified in patients with congenital (newborn) ocular albinism type 1 (also known as Nettleship-Falls type ocular albinism).
Entry Terms : "GPR143 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GPR143"
UMDC code : 24645