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  • 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).
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