Article
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.
Genes and immunity - 1 Feb 2012
Kozyrev S V, Bernal-Quirós M, Alarcón-Riquelme M E, Castillejo-López C
Abstract excerpt
Numerous loci have been found genetically associated with complex diseases, but only in a few cases has the functional variant and the molecular mechanism behind it been identified. Recently, the association of the BANK1 gene with systemic lupus erythematosus (SLE) was described. Here, we investigated the role of the associated polymorphisms on gene function and found that SNP rs17266594 located in the branch...
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