MIURA Kenichiro
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Associate Professor |
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Article types | Original article |
Language | English |
Peer review | Peer reviewed |
Title | Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome. |
Journal | Formal name:Journal of human genetics Abbreviation:J Hum Genet ISSN code:1435232X/14345161 |
Domestic / Foregin | Foregin |
Volume, Issue, Page | 65,pp.831-839 |
Author and coauthor | Nakano Eiji, Yoshida Amine, Miyama Yudai, Yabuuchi Tomoo, Kajiho Yuko, Kanda Shoichiro, Miura Kenichiro, Oka Akira, Harita Yutaka |
Publication date | 2020/05 |
DOI | 10.1038/s10038-020-0773-3 |
PMID | 32427950 |