PropertyValue
?: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).
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all