> Reagents, Molecular Assay, Gene Anomaly, Mutation, NDP
Reagents, Molecular Assay, Gene Anomaly, Mutation, NDP
Definition : Molecular assay reagents intended to identify mutations in the Norrie's disease (pseudoglioma) (NDP) gene, located at chromosome Xp11.4, which encodes for the protein norrin that participates in the Wnt cascade, a signaling pathway that affects the way cells and tissues develop. Norrin seems to play critical roles in the specialization of the cells of the retina. Mutations at this locus have been identified in patients with Norrie's disease and familial exudative vitreoretinopathy (FEVR).
Entry Terms : "Familial Exudative Vitreoretinopathy (FEVR) Gene Mutation Reagents" , "Coats Disease Gene Mutation Reagents" , "Retinopathy of Prematurity (ROP) Gene Mutation Reagents" , "Persistent Hyperplastic Primary Vitreous (PHPV) Gene Mutation Reagents" , "Norrie Disease (ND) Gene Mutation Reagents" , "NDP-Related Retinopathies Gene Mutation Reagents" , "NDP Gene Mutation Detection Reagents"
UMDC code : 24635
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