Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
Chen Y, Dong X, Wang Y, Lv H, Chen N, Wang Z, Chen S, Chen P, Xiao S, Zhao J, Dong J.
Chen Y, et al. Among authors: xiao s.
Front Neurosci. 2023 May 5;17:1184333. doi: 10.3389/fnins.2023.1184333. eCollection 2023.
Front Neurosci. 2023.
PMID: 37214396
Free PMC article.
Till now, little is known about the fCCMs mutation spectrum in the Han Chinese population. In this study, we enrolled a large, aggregated family, 11/26 of the family members were diagnosed with CCMs by pathological or neuroradiological examination, with a high percentage ( …
Till now, little is known about the fCCMs mutation spectrum in the Han Chinese population. In this study, we enrolled a large, aggreg …