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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2005-4-18
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pubmed:abstractText |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0022-3050
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pubmed:author |
pubmed-author:AgugliaUU,
pubmed-author:BianchiSS,
pubmed-author:ConfortiF LFL,
pubmed-author:ConsoliDD,
pubmed-author:DottiM TMT,
pubmed-author:FedericoAA,
pubmed-author:GuidettiDD,
pubmed-author:InzitariDD,
pubmed-author:MazzeiRR,
pubmed-author:PantoniLL,
pubmed-author:QuattroneAA,
pubmed-author:SartiCC,
pubmed-author:ScalaGG,
pubmed-author:SprovieriTT
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pubmed:issnType |
Print
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pubmed:volume |
76
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
736-8
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pubmed:dateRevised |
2008-11-20
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pubmed:meshHeading |
pubmed-meshheading:15834039-CADASIL,
pubmed-meshheading:15834039-DNA Mutational Analysis,
pubmed-meshheading:15834039-DNA Primers,
pubmed-meshheading:15834039-Exons,
pubmed-meshheading:15834039-Genomic Library,
pubmed-meshheading:15834039-Humans,
pubmed-meshheading:15834039-Italy,
pubmed-meshheading:15834039-Point Mutation,
pubmed-meshheading:15834039-Polymerase Chain Reaction,
pubmed-meshheading:15834039-Proto-Oncogene Proteins,
pubmed-meshheading:15834039-Receptors, Cell Surface,
pubmed-meshheading:15834039-Receptors, Notch
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pubmed:year |
2005
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pubmed:articleTitle |
The spectrum of Notch3 mutations in 28 Italian CADASIL families.
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pubmed:affiliation |
Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy.
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pubmed:publicationType |
Journal Article
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