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A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.

作者信息

Mukai Mao, Mizuta Ikuko, Ueda Akihiko, Nakashima Daisuke, Kushimura Yukie, Noto Yu-Ichi, Ohara Tomoyuki, Itoh Kyoko, Ando Yukio, Mizuno Toshiki

机构信息

Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

出版信息

J Neurol Sci. 2018 Nov 15;394:38-40. doi: 10.1016/j.jns.2018.08.029. Epub 2018 Aug 29.

DOI:10.1016/j.jns.2018.08.029
PMID:30199759
Abstract
摘要

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