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Identification of a Recurrent Missense Mutation in the Norrie Disease Gene Associated with a Simplex Case of Exudative Vitreoretinopathy

✍ Scribed by Barkur S. Shastry


Book ID
115582027
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
411 KB
Volume
246
Category
Article
ISSN
0006-291X

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Identification of novel missense mutatio
✍ Barkur S. Shastry; James F. Hejtmancik; Michael T. Trese πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 173 KB πŸ‘ 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