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Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J. Morin G, et al. Among authors: oldenburg j. Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621. Hum Mutat. 2014. PMID: 25044882
Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci.
Singer H, Walier M, Nüsgen N, Meesters C, Schreiner F, Woelfle J, Fimmers R, Wienker T, Kalscheuer VM, Becker T, Schwaab R, Oldenburg J, El-Maarri O. Singer H, et al. Among authors: oldenburg j. Hum Mol Genet. 2012 Jan 1;21(1):219-35. doi: 10.1093/hmg/ddr456. Epub 2011 Oct 4. Hum Mol Genet. 2012. PMID: 21972244 Free PMC article.
762 results