Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. [electronic resource]
Producer: 20130322Description: e1003001 p. digitalISSN:- 1553-7404
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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