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

Journal of Neurology

Volumn 257, Issue 6, 2010, Pages 1039-1042

  Bianchi, S ^a   Rufa, A ^a   Ragno, M ^b   D'Eramo, C ^a   Pescini, F ^e   Pantoni, L ^e   Cappelli, A ^c,d   Perretti, A ^f   Zicari, E ^a   Zolo, P ^g   Inzitari, D ^e   Dotti, M T ^a   Federico, A ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b Ospedale Mazzoni   (Italy)

^c SezBiologia Molecolare Ospedale GandG Mazzoni   (Italy)

^d UNIVERSITY OF CAMERINO   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g IRCCS POLICLINICO SAN DONATO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH3 RECEPTOR; NOTCH RECEPTOR; NOTCH3 PROTEIN, HUMAN;

ARTERY EMBOLISM; CADASIL; EXON; GENE; GENE MUTATION; HUMAN; LETTER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPTIC NERVE DISEASE; PERIPHERAL VASCULAR SYSTEM; PHENOTYPE; PRIORITY JOURNAL; ADULT; AGED; CAUCASIAN; COHORT ANALYSIS; FAMILY; FEMALE; GENETICS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; CADASIL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FAMILY; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, NOTCH;

EID: 77954427709     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5481-z     Document Type: Letter

References (15)

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