Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy

Identification of novel missense mutatio

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy

✍ Barkur S. Shastry; James F. Hejtmancik; Michael T. Trese 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 2 views

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Nor