A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
Kang YR, Lee SH, Lin NH, Lee SJ, Yang AW, Chandrasekaran G, Kang KW, Jin MS, Kim MK, Perng MD, Choi SY, Nam TS.
Kang YR, et al. Among authors: chandrasekaran g.
Eur J Hum Genet. 2022 Jun;30(6):687-694. doi: 10.1038/s41431-022-01073-2. Epub 2022 Mar 4.
Eur J Hum Genet. 2022.
PMID: 35246666
Free PMC article.