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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Borg J, Papadopoulos P, Georgitsi M, Gutiérrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgür Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Borg J, et al. Among authors: von lindern m. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1. Nat Genet. 2010. PMID: 20676099 Free PMC article.
Tissue-specific splicing factor gene expression signatures.
Grosso AR, Gomes AQ, Barbosa-Morais NL, Caldeira S, Thorne NP, Grech G, von Lindern M, Carmo-Fonseca M. Grosso AR, et al. Among authors: von lindern m. Nucleic Acids Res. 2008 Sep;36(15):4823-32. doi: 10.1093/nar/gkn463. Epub 2008 Jul 24. Nucleic Acids Res. 2008. PMID: 18653532 Free PMC article.
Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.
Heshusius S, Grech L, Gillemans N, Brouwer RWW, den Dekker XT, van IJcken WFJ, Nota B, Felice AE, van Dijk TB, von Lindern M, Borg J, van den Akker E, Philipsen S. Heshusius S, et al. Among authors: von lindern m. Sci Rep. 2022 Jan 10;12(1):336. doi: 10.1038/s41598-021-04126-6. Sci Rep. 2022. PMID: 35013432 Free PMC article.
120 results