YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
|
Article types | Case report |
Language | English |
Peer review | Peer reviewed |
Title | Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease |
Journal | Formal name:Human Genome Variation Abbreviation:Hum Genome Var ISSN code:2054-345X |
Domestic / Foregin | Foregin |
Volume, Issue, Page | 8,pp.14 |
Author and coauthor | Yamamoto-Shimojima K†, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T* |
Authorship | Corresponding author |
Publication date | 2021/04/01 |
DOI | https://doi.org/10.1038/s41439-021-00144-y |