Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. [electronic resource]
- Human mutation Jun 2010
- 656-66 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.21250 doi
Animals Binding Sites--genetics Disease Models, Animal Eye Proteins--chemistry Family Health Frizzled Receptors--chemistry Humans LDL-Receptor Related Proteins--chemistry Low Density Lipoprotein Receptor-Related Protein-5 Mice Models, Molecular Mutation Nerve Tissue Proteins--chemistry Protein Structure, Secondary Protein Structure, Tertiary Receptors, G-Protein-Coupled--chemistry Retinal Diseases--genetics Signal Transduction Vitreoretinopathy, Proliferative--genetics Wnt Proteins--metabolism