Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Guy HelmanAsako TakanohashiTracy L HagemannMing D PerngMarzena WalkiewiczSarah WoidillSunetra SaseZachary CrossYangzhu DuLing ZhaoAmy WaldmanBret C HaakeAli FatemiMichael BrennerOmar SherbiniAlbee MessingAdeline VanderverCas SimonsPublished in: Human mutation (2022)