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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal-Todd C, Asrat MJ, Nuk J, Mindlin A, Young S, MacMillan A, Van Maerken T, Trbusek M, McKinnon W, Wood ME, Foulkes WD, Santamariña M, de la Hoya M, Foretova L, Poppe B, Vral A, Rosseel T, De Leeneer K, Vega A, Claes KBM. Baert A, et al. Among authors: poppe b. Hum Mutat. 2018 Apr;39(4):515-526. doi: 10.1002/humu.23390. Epub 2018 Jan 22. Hum Mutat. 2018. PMID: 29280214
Rapid detection of VHL exon deletions using real-time quantitative PCR.
Hoebeeck J, van der Luijt R, Poppe B, De Smet E, Yigit N, Claes K, Zewald R, de Jong GJ, De Paepe A, Speleman F, Vandesompele J. Hoebeeck J, et al. Among authors: poppe b. Lab Invest. 2005 Jan;85(1):24-33. doi: 10.1038/labinvest.3700209. Lab Invest. 2005. PMID: 15608663 Free article.
270 results