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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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Detalles Bibliográficos
Main Authors: Ge, Wei, Kuang, Hanzhe, Wei, Bin, Bo, Le, Xu, Zhice, Xu, Xingshun, Geng, Deqin, Sun, Miao
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2014
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Acceso en liña: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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