| Item type |
学術雑誌論文 / Journal Article_02(1) |
| 公開日 |
2025-05-28 |
| タイトル |
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|
タイトル |
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
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資源タイプ |
journal article |
| アクセス権 |
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|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 著者 |
Satomi, Okano
Yoshio, Makita
Akie, Miyamoto
Genya, Taketazu
Kayano, Kimura
Ikue, Fukuda
Hajime, Tanaka
Kumiko, Yanagi
Tadashi, Kaname
|
| bibliographic_information |
en : Human genome variation
巻 10,
号 1,
p. 4,
発行日 2023-02-02
|
| ISSN |
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|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2054-345X |
| DOI |
|
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1038/s41439-023-00232-1 |
| リンクURL |
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|
内容記述タイプ |
Other |
|
内容記述 |
https://www.nature.com/articles/s41439-023-00232-1 |
|
言語 |
en |
| item_1716186501932 |
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|
関連タイプ |
isIdenticalTo |
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|
識別子タイプ |
PMID |
|
|
関連識別子 |
36726007 |
| item_5_description_33 |
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内容記述タイプ |
Abstract |
|
内容記述 |
The X-linked human glutamate receptor subunit 3 (GRIA3) gene (MIM *305915, Xq25) encodes ionotropic α amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)-type glutamate receptor subunit 3, which mediates postsynaptic neurotransmission. Variants in this gene can cause a variety of neurological disorders, primarily reported in male patients. Here, we report a female patient with developmental and epileptic encephalopathy who carries the novel de novo GRIA3 variant NM_007325.5: c.1982T > C: p.Met661Thr. |
|
言語 |
en |
| 注記 |
|
|
内容記述タイプ |
Other |
|
注記 |
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
|
言語 |
en |
| 出版タイプ |
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出版タイプ |
VoR |
| item_5_textarea_42 |
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|
en |
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© 2023. The Author(s). |
36726007.pdf (1.4 MB)
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