TY - JOUR AU - Cénit, María Carmen AU - Márquez, Ana AU - Cordero-Coma, Miguel AU - Fonollosa, Alejandro AU - Llorenç, Victor AU - Artaraz, Joseba AU - Díaz Valle, David AU - Blanco, Ricardo AU - Cañal, Joaquín AU - Salom, David AU - García Serrano, José Luis AU - Ramón, Enrique de AU - Rio, María José del AU - Gorroño-Echebarría, Marina Begoña AU - Martín-Villa, José Manuel AU - Molins, Blanca AU - Ortego-Centeno, Norberto AU - Martín, Javier PY - 2013 UR - http://hdl.handle.net/10668/1590 T2 - Molecular vision AB - OBJECTIVEEndogenous uveitis is a major cause of visual loss mediated by the immune system. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase that plays a key role in T-cell receptor (TCR)... LA - en PB - Molecular Vision KW - Alelos KW - Demografía KW - Estudios de casos y controles KW - Estudios de asociación genética KW - Frecuencia génica KW - Predisposición genética a la enfermedad KW - Proteínas mutantes KW - Polimorfismo de nucleótido único KW - Proteína tirosina fosfatasa no receptora de tipo 22 KW - Uveítis anterior KW - España KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Amino Acid Substitution KW - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies KW - Medical Subject Headings::Health Care::Population Characteristics::Demography KW - Medical Subject Headings::Check Tags::Female KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency KW - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease KW - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans KW - Medical Subject Headings::Check Tags::Male KW - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged KW - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Mutant Proteins KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide KW - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Intracellular Signaling Peptides and Proteins::Protein Tyrosine Phosphatases, Non-Receptor::Protein Tyrosine Phosphatase, Non-Receptor Type 22 KW - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain KW - Medical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitis::Panuveitis::Uveitis, Anterior KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles TI - Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis. TY - research article ER -