The spectrum of Notch3 mutations in 28 Italian CADASIL families

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...

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Hlavní autoři: Dotti, M, Federico, A, Mazzei, R, Bianchi, S, Scali, O, Conforti, F, Sprovieri, T, Guidetti, D, Aguglia, U, Consoli, D, Pantoni, L, Sarti, C, Inzitari, D, Quattrone, A
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2005
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1739611/
https://ncbi.nlm.nih.gov/pubmed/15834039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2004.048207
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