A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (Articolo in rivista)

Type
Label
  • A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (Articolo in rivista) (literal)
Anno
  • 2004-01-01T00:00:00+01:00 (literal)
Alternative label
  • Mazzei R; Conforti FL; Lanza PL; Sprovieri T; Lupo MR; Gallo O; Patitucci A; Magariello A; Caracciolo M; Gabriele AL; Fera F; Valentino P; Bono F; Cenacchi G; Santoro G;Muglia M; Quattrone A. (2004)
    A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.
    in Neurology; Advanstar communications, Cleveland, Ohio (Stati Uniti d'America)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Mazzei R; Conforti FL; Lanza PL; Sprovieri T; Lupo MR; Gallo O; Patitucci A; Magariello A; Caracciolo M; Gabriele AL; Fera F; Valentino P; Bono F; Cenacchi G; Santoro G;Muglia M; Quattrone A. (literal)
Pagina inizio
  • 561 (literal)
Pagina fine
  • 564 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.ncbi.nlm.nih.gov/pubmed/15304596 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 63 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 4 (literal)
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  • 3 (literal)
Note
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • From the Institute of Neurological Sciences (Drs. Mazzei, Conforti, Lanza, Sprovieri, Lupo, Gallo, Patitucci, Magariello, Caracciolo, Gabriele, Fera, Santoro, Muglia, and Quattrone), National Research Council, Piano Lago di Mangone, Cosenza, Italy; Department of Neurological Sciences (Drs. Lanza and Santoro), Ospedale Annunziata, Cosenza, Italy; Department of Radiological and Istocytopathological Sciences, Section of Pathology (Dr. Cenacchi), University of Bologna, Italy; and Institute of Neurology (Drs. Valentino, Bono, and Quattrone), University Magna Graecia, Catanzaro, Italy. (literal)
Titolo
  • A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (literal)
Abstract
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue. (literal)
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