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Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly occur in the brain. CCMs can be sporadic or hereditary in an autosomal dominant manner. The genes harboring variants of familial CCMs (FCCMs) include CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. In this study, we identifie...

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Detalhes bibliográficos
Publicado no:Front Neurosci
Main Authors: Zhang, Fan, Xue, Yiteng, Zhang, Feng, Wei, Xiaoming, Zhou, Zhisong, Ma, Zhaoru, Wang, Xiaosong, Shen, Hong, Li, Yujun, Cui, Xiaoying, Liu, Li
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7538688/
https://ncbi.nlm.nih.gov/pubmed/33071727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2020.525986
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