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

Autor:	Kyoko Itoh, Tomoyuki Ohara, Yu-ichi Noto, Yukie Kushimura, Daisuke Nakashima, Toshiki Mizuno, Yukio Ando, Mao Mukai, Ikuko Mizuta, Akihiko Ueda
Rok vydání:	2018
Předmět:	0301 basic medicine Genetics 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Neurology Mutation (genetic algorithm) medicine Neurology (clinical) Biology CADASIL medicine.disease 030217 neurology & neurosurgery
Zdroj:	Journal of the Neurological Sciences. 394:38-40
ISSN:	0022-510X
DOI:	10.1016/j.jns.2018.08.029
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a076dee971de5e49799f6002990170fe https://doi.org/10.1016/j.jns.2018.08.029 Zobrazit plný text záznamu Full Text from ScienceDirect