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Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.
Nam TS, Kim JH, Chang CH, Yoon W, Jung YS, Kang SY, Shin BA, Perng MD, Choi SY, Kim MK. Nam TS, et al. Eur J Hum Genet. 2015 Jan;23(1):72-8. doi: 10.1038/ejhg.2014.68. Epub 2014 Apr 23. Eur J Hum Genet. 2015. PMID: 24755947 Free PMC article.
(E312*) using western blotting, in vitro assembly and sedimentation assay, and transient transfection of human adrenal cortex carcinoma SW13 (Vim(+)) cells with plasmids encoding GFAP p....(E312*) elicited more GFAP aggregation than wild-type GFAP in the huma …
(E312*) using western blotting, in vitro assembly and sedimentation assay, and transient transfection of human adrenal cortex …