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

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-nuc...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2012
Materias:
Basic and Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375585/
https://www.ncbi.nlm.nih.gov/pubmed/22696686
http://dx.doi.org/10.1136/annrheumdis-2011-200987

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