The spectrum of Notch3 mutations in 28 Italian CADASIL families (Articolo in rivista)

Type
Label
  • The spectrum of Notch3 mutations in 28 Italian CADASIL families (Articolo in rivista) (literal)
Anno
  • 2005-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1136/jnnp.2004.048207 (literal)
Alternative label
  • M T Dotti1; A Federico1; R Mazzei2; S Bianchi1; O Scali1; F L Conforti2; T Sprovieri2; D Guidetti3; U Aguglia4; D Consoli5; L Pantoni6; C Sarti6; D Inzitari6; A Quattrone2 (2005)
    The spectrum of Notch3 mutations in 28 Italian CADASIL families
    in Journal of neurology, neurosurgery and psychiatry
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • M T Dotti1; A Federico1; R Mazzei2; S Bianchi1; O Scali1; F L Conforti2; T Sprovieri2; D Guidetti3; U Aguglia4; D Consoli5; L Pantoni6; C Sarti6; D Inzitari6; A Quattrone2 (literal)
Pagina inizio
  • 736 (literal)
Pagina fine
  • 738 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni
  • - (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 76 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
  • - (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 5 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • - (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1 Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy 2 Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy 3 Unit of Neurology, Reggio Emilia, Italy 4 Unit of Neurology, Reggio Calabria, Italy 5 Unit of Neurology, Vibo Valentia, Italy 6 Department of Neurological and Psychiatric Sciences, University of Florence, Italy (literal)
Titolo
  • The spectrum of Notch3 mutations in 28 Italian CADASIL families (literal)
Abstract
  • BACKGROUND: 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. OBJECTIVE: To report Notch3 mutation analysis in 28 unrelated Italian CADASIL families from central and south Italy. RESULTS: The highest rate of mutations was found in exon 11 (21%) and only 18% of mutations were in exon 4. This may be related to the peculiar distribution of Notch3 mutations in the regions of origin of the families. CONCLUSIONS: The results suggest that limited scanning of exons 3 and 4 is inadvisable in CADASIL cases of Italian origin. (literal)
Prodotto di
Autore CNR
Insieme di parole chiave

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Insieme di parole chiave di
data.CNR.it