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Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG. Zou Y, et al. Among authors: stetefeld j. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11. Hum Mol Genet. 2014. PMID: 24334604 Free PMC article.
T-shaped arrangement of the recombinant agrin G3-IgG Fc protein.
Patel TR, Meier M, Li J, Morris G, Rowe AJ, Stetefeld J. Patel TR, et al. Among authors: stetefeld j. Protein Sci. 2011 Jun;20(6):931-40. doi: 10.1002/pro.628. Epub 2011 Apr 26. Protein Sci. 2011. PMID: 21448912 Free PMC article.
120 results