Ping Fei Qi Zhang Luling Huang Yu Xu Xiong Zhu Zhengfu Tai Bo Gong Shi Ma Quanyao Yao Jing Li Peiquan Zhao Zhenglin Yang
Mol Vis
2014 Mar 29;20:395-409.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/24715757/
Low Density Lipoprotein Receptor-Related Protein-5 / genetics Mutation / genetics Vitreoretinopathy, Proliferative / genetics
Low Density Lipoprotein Receptor-Related Protein-5 / genetics Mutation / genetics Vitreoretinopathy, Proliferative / genetics Case Reports Research Support, Non-U.S. Gov't Amino Acid Sequence Base Sequence Child Family Female Fundus Oculi Genes, Dominant Genes, Reporter Heterozygote Humans Infant Low Density Lipoprotein Receptor-Related Protein-5 / chemistry Luciferases / metabolism Male Molecular Sequence Data Mutant Proteins / chemistry Mutant Proteins / metabolism Pedigree Sequence Alignment Signal Transduction / genetics LRP5 protein, human Low Density Lipoprotein Receptor-Related Protein-5 Mutant Proteins Luciferases
PMC3976684
24715757
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy
2014