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The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.
Namjou B, Ni Y, Harley IT, Chepelev I, Cobb B, Kottyan LC, Gaffney PM, Guthridge JM, Kaufman K, Harley JB. Namjou B, et al. PLoS One. 2014 Dec 29;9(12):e115614. doi: 10.1371/journal.pone.0115614. eCollection 2014. PLoS One. 2014. PMID: 25545785 Free PMC article.
To explore the potential influence of the polymorphic 8p23.1 inversion on known autoimmune susceptibility risk at or near BLK locus, we validated a new bioinformatics method that utilizes SNP data to enable accurate, high-throughput genotyping of the 8p23
To explore the potential influence of the polymorphic 8p23.1 inversion on known autoimmune susceptibility risk at or near B
Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus.
Demirci FY, Wang X, Morris DL, Feingold E, Bernatsky S, Pineau C, Clarke A, Ramsey-Goldman R, Manzi S, Vyse TJ, Kamboh MI. Demirci FY, et al. J Med Genet. 2017 Jun;54(6):381-389. doi: 10.1136/jmedgenet-2016-104247. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289186 Free PMC article.
BACKGROUND: A major systemic lupus erythematosus (SLE) susceptibility locus lies within a common inversion polymorphism region (encompassing 3.8 - 4.5  Mb) located at 8p23. ...Functional assessment of relevant SNPs indicated putative cis-effe
BACKGROUND: A major systemic lupus erythematosus (SLE) susceptibility locus lies within a common inversion polym …
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