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CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene

CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2708670565

CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene

About this item

Full title

CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene

Publisher

Warsaw: Medical Communications Sp. z o.o

Journal title

Aktualności neurologiczne, 2018-01, Vol.18 (1), p.47

Language

Formats

Publication information

Publisher

Warsaw: Medical Communications Sp. z o.o

Subjects

More information

Scope and Contents

Contents

The most common hereditary cerebral small vessel disease, associated with strokes and vascular dementia, is known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL is caused by mutations of the NOTCH3 gene. Since most pathogenic mutations at the protein level result with cysteine being...

Alternative Titles

Full title

CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2708670565

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2708670565

Other Identifiers

ISSN

1641-9227

E-ISSN

2451-0696

DOI

10.15557/AN.2018.0007

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