Article
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.
Annals of the rheumatic diseases - 1 Jul 2012
Delgado-Vega Angélica M, Dozmorov Mikhail G, Quirós Manuel Bernal, Wu Ying-Yu, Martínez-García Belén, Kozyrev Sergey V, Frostegård Johan, Truedsson Lennart, de Ramón Enrique, González-Escribano María F, Ortego-Centeno Norberto, Pons-Estel Bernardo A, D'Alfonso Sandra, Sebastiani Gian Domenico, Witte Torsten, Lauwerys Bernard R, Endreffy Emoke, Kovács László, Vasconcelos Carlos, da Silva Berta Martins, Wren Jonathan D, Martin Javier, Castillejo-López Casimiro, Alarcón-Riquelme Marta E
Abstract excerpt
OBJECTIVES: To perform fine mapping of the autoimmunity susceptibility gene BLK and identify functional variants involved in systemic lupus erythematosus (SLE). METHODS: Genotyping of 1163 European SLE patients and 1482 controls and imputation were performed covering the BLK gene with 158 single-nucleotide polymorphisms. Logistic regression analysis was done using PLINK and conditional analyses using GENABEL's...
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