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A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation
BACKGROUND: Autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebrovascular disease closely related to the NOTCH3 gene. More than 200 mutations in this gene have been reported to be associated with this disease. METHODS: The NOTCH3 gene from CADASIL p...
Autores principales: | Liu, Jiahui, Zhang, Qiaoyu, Wang, Qi, Luan, Siyu, Dong, Xiang, Cao, Hua, Tao, Dingbo, Dong, Huijie, Ji, Xiaofei |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8605158/ https://www.ncbi.nlm.nih.gov/pubmed/34558736 http://dx.doi.org/10.1002/jcla.24027 |
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