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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1551700944

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

About this item

Full title

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

Publisher

United States: Public Library of Science

Journal title

PloS one, 2014-08, Vol.9 (8), p.e104533

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

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

Identifiers

Primary Identifiers

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

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