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Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
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| 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 | Lead author |
| Publication date | 2021/04/01 |
| DOI | https://doi.org/10.1038/s41439-021-00144-y |