MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.
作者信息
Kawarai Toshitaka, Yamasaki Kanto, Mori Atsuko, Takamatsu Naoko, Osaki Yusuke, Banzrai Chimeglkham, Miyamoto Ryosuke, Oki Ryosuke, Pedace Lucia, Orlacchio Antonio, Nodera Hiroyuki, Hashiguchi Akihiro, Higuchi Yujiro, Takashima Hiroshi, Nishida Yoshihiko, Izumi Yuishin, Kaji Ryuji
机构信息
Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
Faculty of Medicine, Tokushima University, Tokushima, Japan.
出版信息
J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1263-1265. doi: 10.1136/jnnp-2015-312646. Epub 2016 May 6.
PMID:27154191
Abstract
摘要
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