| Item type |
文献 / Documents(1) |
| 公開日 |
2021-12-22 |
| アクセス権 |
|
|
アクセス権 |
open access |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
|
|
関連識別子 |
https://doi.org/10.1038/s41439-021-00150-0 |
|
|
関連名称 |
10.1038/s41439-021-00150-0 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma |
| 著者 |
ムトウ, コウヘイ
宮本, 亮介
寺澤, 由佳
島谷, 佳光
原, 慶次郎
柿本, 拓海
フクモト, タツヤ
大崎, 裕亮
藤田, 浩司
原田, 雅史
上原, 久典
髙木, 康志
和泉, 唯信
|
| 抄録 |
|
|
内容記述 |
COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neural tumors has been described. Here, we report a Japanese family with a novel COL4A1 variant, including a patient with recurrent epistaxis and glioblastoma. |
| 書誌情報 |
en : Human Genome Variation
巻 8,
p. 18,
発行日 2021-05-14
|
| 収録物ID |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
2054345X |
| 出版者 |
|
|
出版者 |
Springer Nature |
| 権利情報 |
|
|
権利情報 |
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/. |
| EID |
|
|
識別子 |
386034 |
| 言語 |
|
|
言語 |
eng |
hgv_8_18.pdf (724 KB)
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