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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Bibliographic Details
Main Authors: Ge, Wei, Kuang, Hanzhe, Wei, Bin, Bo, Le, Xu, Zhice, Xu, Xingshun, Geng, Deqin, Sun, Miao
Format: Artigo
Language:Inglês
Published: Public Library of Science 2014
Subjects:
Research Article
Online Access: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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