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| ファイル | 記述 | サイズ | フォーマット | |
|---|---|---|---|---|
| s41439-020-00134-6.pdf | 687.45 kB | Adobe PDF | 見る/開く |
| タイトル: | A pediatric case of productive cough caused by novel variants in DNAH9 |
| 著者: | Takeuchi, Kazuhiko Xu, Yifei Ogawa, Satoru Ikejiri, Makoto Nakatani, Kaname Gotoh, Shimpei Usui, Satoko Masuda, Sawako Nagao, Mizuho Fujisawa, Takao |
| 著者名の別形: | 竹内, 万彦 小川, 覚 池尻, 誠 中谷, 中 後藤, 慎平 臼井, 智子 増田, 佐和子 長尾, みづほ 藤澤, 隆夫 |
| キーワード: | Medical genomics Respiratory tract diseases |
| 発行日: | 15-Jan-2021 |
| 出版者: | Springer Nature |
| 誌名: | Human Genome Variation |
| 巻: | 8 |
| 論文番号: | 3 |
| 抄録: | We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel DNAH9 variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]). |
| 著作権等: | © The Author(s) 2021. 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/. |
| URI: | http://hdl.handle.net/2433/261678 |
| DOI(出版社版): | 10.1038/s41439-020-00134-6 |
| PubMed ID: | 33452233 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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