NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Archetypal disease-causing mutations are cysteine-affecting variants within the 34 epidermal growth factor-like repeat (EGFr...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Genet
Prif Awduron: Hu, Yacen, Sun, Qiying, Zhou, Yafang, Yi, Fang, Tang, Haiyun, Yao, Lingyan, Tian, Yun, Xie, Nina, Luo, Mengchuan, Wang, Zhiqin, Liao, Xinxin, Xu, Hongwei, Zhou, Lin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2021
Pynciau:
Genetics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8320595/
https://ncbi.nlm.nih.gov/pubmed/34335700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.705284
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