Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. [electronic resource]
- PLoS genetics 2012
- e1003001 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1553-7404
10.1371/journal.pgen.1003001 doi
Amino Acid Sequence Base Sequence Calpain--chemistry Cell Line Cells, Cultured Choroid Diseases--genetics Exome Exons Eye Diseases, Hereditary--genetics Female Gene Expression Genetic Linkage Humans Male Models, Molecular Molecular Sequence Data Mutation Pedigree Phenotype Photoreceptor Cells, Vertebrate--metabolism Protein Conformation Protein Transport Retinal Degeneration--genetics Sequence Alignment