NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment
NOTCH2NLC GGC重复序列扩增会导致视网膜病变,表现为视网膜各处出现核内包涵体,并最终导致视力障碍。
期刊:Acta Neuropathologica Communications
影响因子:
doi:10.1186/s40478-023-01564-3
Sone, Jun; Ueno, Shinji; Akagi, Akio; Miyahara, Hiroaki; Tamai, Chisato; Riku, Yuichi; Yabata, Hiroyuki; Koizumi, Ryuichi; Hattori, Tomohiro; Hirose, Hiroshi; Koyanagi, Yoshito; Kobayashi, Rei; Okada, Hisashi; Kishimoto, Yoshiyuki; Hashizume, Yoshio; Sobue, Gen; Yoshida, Mari; Iwasaki, Yasushi