Literature DB >> 18386330

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL.

Silvia Bianchi1, M T Dotti, A Perretti, A De Rosa, F Manganelli, A Federico.   

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Year:  2007        PMID: 18386330

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


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  1 in total

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

Authors:  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
Journal:  J Neurol       Date:  2010-02-19       Impact factor: 4.849

  1 in total

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