A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL
A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL
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Author / Creator
Ge, Wei , Kuang, Hanzhe , Wei, Bin , Bo, Le , Xu, Zhice , Xu, Xingshun , Geng, Deqin and Sun, Miao
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 growth factor-like (EGF-like) repeat domains. Each E...
Alternative Titles
Full title
A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL
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Author / Creator
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Record Identifier
TN_cdi_plos_journals_1551700944
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1551700944
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0104533