在一名患有大脑常染色体显性动脉病伴皮质下梗死和白质脑病（CADASIL）的意大利患者中发现了NOTCH3基因第22外显子上的致病性罕见突变。 - Suppr

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超能文献

A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.

作者信息

Ungaro C, Servillo P, Mazzei Rosalucia, Consoli D, Conforti F L, Sprovieri T, Lanza P L, Quattrone A

出版信息

Neurol Sci. 2009 Jun;30(3):269-71. doi: 10.1007/s10072-009-0040-z. Epub 2009 Mar 4.

DOI:10.1007/s10072-009-0040-z

PMID:19259619

Abstract

摘要

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