| Item type |
文献 / Documents(1) |
| 公開日 |
2021-08-30 |
| 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/s41439-020-0108-0 |
|
|
関連名称 |
10.1038/s41439-020-0108-0 |
| 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 |
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome |
| 著者 |
オオスミ, ケイタ
須賀, 健一
オノ, アケミ
郷司, 彩
森, 達夫
木下, ゆき子
菅野, 幹雄
東田, 好広
漆原, 真樹
中川, 竜二
早渕, 康信
井本, 逸勢
香美, 祥二
|
| 抄録 |
|
|
内容記述 |
A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19–42 of TSC2 and exons 2–46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease. |
| 書誌情報 |
en : Human Genome Variation
巻 7,
p. 21,
発行日 2020-07-16
|
| 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 |
374138 |
| 言語 |
|
|
言語 |
eng |
hgv_7_21.pdf (811 KB)
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