Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Mahajan, Vinit B; Skeie, Jessica M; Bassuk, Alexander G; Fingert, John H; Braun, Terry A; Daggett, Heather T; Folk, James C; Sheffield, Val C; Stone, Edwin M

Mahajan, Vinit B; Skeie, Jessica M; Bassuk, Alexander G; Fingert, John H; Braun, Terry A; Daggett, Heather T; Folk, James C; Sheffield, Val C; Stone, Edwin M.

Affiliation

Mahajan VB; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.

PLoS Genet ; 8(10): e1003001, 2012.

Article in En | MEDLINE | ID: mdl-23055945

Subject(s)

Calpain/genetics; Choroid Diseases/genetics; Eye Diseases, Hereditary/genetics; Mutation; Retinal Degeneration/genetics; Amino Acid Sequence; Base Sequence; Calpain/chemistry; Cell Line; Cells, Cultured; Choroid Diseases/pathology; Exome; Exons; Eye Diseases, Hereditary/pathology; Female; Gene Expression; Genetic Linkage; Humans; Male; Models, Molecular; Molecular Sequence Data; Pedigree; Phenotype; Photoreceptor Cells, Vertebrate/metabolism; Photoreceptor Cells, Vertebrate/pathology; Protein Conformation; Protein Transport; Retinal Degeneration/pathology; Sequence Alignment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Degeneration / Calpain / Choroid Diseases / Eye Diseases, Hereditary / Mutation Limits: Female / Humans / Male Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2012 Type: Article Affiliation country: United States

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