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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Detalles Bibliográficos
Autores principales: Zhang, Fan, Xue, Yiteng, Zhang, Feng, Wei, Xiaoming, Zhou, Zhisong, Ma, Zhaoru, Wang, Xiaosong, Shen, Hong, Li, Yujun, Cui, Xiaoying, Liu, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7538688/
https://www.ncbi.nlm.nih.gov/pubmed/33071727
http://dx.doi.org/10.3389/fnins.2020.525986

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7538688/
https://www.ncbi.nlm.nih.gov/pubmed/33071727
http://dx.doi.org/10.3389/fnins.2020.525986

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