TY - GEN AU - Delgado-Vega,Angélica M AU - Dozmorov,Mikhail G AU - Quirós,Manuel Bernal AU - Wu,Ying-Yu AU - Martínez-García,Belén AU - Kozyrev,Sergey V AU - Frostegård,Johan AU - Truedsson,Lennart AU - de Ramón,Enrique AU - González-Escribano,María F AU - Ortego-Centeno,Norberto AU - Pons-Estel,Bernardo A AU - D'Alfonso,Sandra AU - Sebastiani,Gian Domenico AU - Witte,Torsten AU - Lauwerys,Bernard R AU - Endreffy,Emoke AU - Kovács,László AU - Vasconcelos,Carlos AU - da Silva,Berta Martins AU - Wren,Jonathan D AU - Martin,Javier AU - Castillejo-López,Casimiro AU - Alarcón-Riquelme,Marta E TI - Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein SN - 1468-2060 PY - 2012///0821 KW - Biomarkers KW - metabolism KW - Chromosome Mapping KW - Gene Expression Regulation, Enzymologic KW - Genetic Markers KW - genetics KW - Genetic Predisposition to Disease KW - Genotype KW - HEK293 Cells KW - Half-Life KW - Humans KW - Lupus Erythematosus, Systemic KW - Mutation KW - NF-kappa B KW - Polymorphism, Single Nucleotide KW - Protein Binding KW - Protein Stability KW - Transfection KW - src-Family Kinases N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1136/annrheumdis-2011-200987 ER -