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A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset cerebral small vessel disorder caused by the mutations of the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The extracellular part of NOTCH3 is composed of 34 epidermal gr...

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Detaylı Bibliyografya
Asıl Yazarlar: Ge, Wei, Kuang, Hanzhe, Wei, Bin, Bo, Le, Xu, Zhice, Xu, Xingshun, Geng, Deqin, Sun, Miao
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4123979/
https://ncbi.nlm.nih.gov/pubmed/25098330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104533
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