A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.
Matsumoto A, Tulyeu J, Furukawa R, Watanabe C, Monden Y, Nozaki Y, Mori M, Namekawa M, Jimbo EF, Aihara T, Yamagata T, Osaka H.
Matsumoto A, et al. Among authors: nozaki y.
Brain Dev. 2018 Aug;40(7):587-591. doi: 10.1016/j.braindev.2018.03.002. Epub 2018 Mar 21.
Brain Dev. 2018.
PMID: 29573842