Atsushi Miki
Department Kawasaki Medical School Kawasaki Medical School, Department of Ophthalmology 1, Position Professor |
|
Article types | 症例報告 |
Language | English |
Peer review | Peer reviewed |
Title | A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay |
Journal | Formal name:Human genome variation Abbreviation:Hum Genome Var |
Domestic / Foregin | Foregin |
Volume, Issue, Page | 10(1),pp.https://www.nature.com/articles/s41439-023-00255-8 |
Author and coauthor | Takahito Moriwaki , Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo |
Publication date | 2023/10/16 |
DOI | doi: 10.1038/s41439-023-00255-8. |
PMID | 37845262 |