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A point mutation in the putative TATA box, detected in nondiseased individuals and patients with hereditary breast cancer, decreases promoter activity of the 17 beta-hydroxysteroid dehydrogenase type 1 gene 2 (EDH17B2) in vitro.
Peltoketo H, Piao Y, Mannermaa A, Ponder BA, Isomaa V, Poutanen M, Winqvist R, Vihko R. Peltoketo H, et al. Among authors: mannermaa a. Genomics. 1994 Sep 1;23(1):250-2. doi: 10.1006/geno.1994.1487. Genomics. 1994. PMID: 7829082
Penetrance analysis of the PALB2 c.1592delT founder mutation.
Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL. Erkko H, et al. Among authors: mannermaa a. Clin Cancer Res. 2008 Jul 15;14(14):4667-71. doi: 10.1158/1078-0432.CCR-08-0210. Clin Cancer Res. 2008. PMID: 18628482
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