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High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families : phenotypic peculiarities

Academic Article
Publication Date:
2010
Citation:
High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families : phenotypic peculiarities / S. Bianchi, A. Rufa, M. Ragno, C. D'Eramo, F. Pescini, L. Pantoni, A. Cappelli, A. Perretti, E. Zicari, P. Zolo, D. Inzitari, M.T. Dotti, A. Federico. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - 257:6(2010 Jun), pp. 1039-1042.
IRIS type:
01 - Articolo su periodico
Keywords:
Adult; Aged; Aged, 80 and over; CADASIL; Cohort Studies; DNA Mutational Analysis; European Continental Ancestry Group; Family; Female; Humans; Italy; Male; Middle Aged; Pedigree; Receptor, Notch3; Receptors, Notch; Exons; Mutation; Phenotype; Neurology; Neurology (clinical)
List of contributors:
S. Bianchi, A. Rufa, M. Ragno, C. D'Eramo, F. Pescini, L. Pantoni, A. Cappelli, A. Perretti, E. Zicari, P. Zolo, D. Inzitari, M.T. Dotti, A. Federico
Authors of the University:
PANTONI LEONARDO ( author )
Link to information sheet:
https://air.unimi.it/handle/2434/551862
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