TY  - GEN
AU  - Mahajan,Vinit B
AU  - Skeie,Jessica M
AU  - Bassuk,Alexander G
AU  - Fingert,John H
AU  - Braun,Terry A
AU  - Daggett,Heather T
AU  - Folk,James C
AU  - Sheffield,Val C
AU  - Stone,Edwin M
TI  - Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration
SN  - 1553-7404
PY  - 2013///0322
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Calpain
KW  - chemistry
KW  - Cell Line
KW  - Cells, Cultured
KW  - Choroid Diseases
KW  - genetics
KW  - Exome
KW  - Exons
KW  - Eye Diseases, Hereditary
KW  - Female
KW  - Gene Expression
KW  - Genetic Linkage
KW  - Humans
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Photoreceptor Cells, Vertebrate
KW  - metabolism
KW  - Protein Conformation
KW  - Protein Transport
KW  - Retinal Degeneration
KW  - Sequence Alignment
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1371/journal.pgen.1003001
ER  -