Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C.
Helman G, et al. Among authors: messing a.
Hum Mutat. 2022 Sep;43(9):1344. doi: 10.1002/humu.24400.
Hum Mutat. 2022.
PMID: 35920398
Free PMC article.
No abstract available.