Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

Mamiko Yamada; Tatsuyuki Sokoda; Tomoko Uehara; Hisato Suzuki; Toshiki Takenouchi; Tatsuhiko Yagihashi; Yoshihiro Maruo; Kenjiro Kosaki

doi:10.1002/ajmg.a.61892

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

Mamiko Yamada, Tatsuyuki Sokoda, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Tatsuhiko Yagihashi, Yoshihiro Maruo, Kenjiro Kosaki

研究成果: Letter › 査読

本文言語	English
ページ（範囲）	3064-3067
ページ数	4
ジャーナル	American Journal of Medical Genetics, Part A
巻	182
号	12
DOI	https://doi.org/10.1002/ajmg.a.61892
出版ステータス	Published - 2020 12月

ASJC Scopus subject areas

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1002/ajmg.a.61892

他のファイルとリンク

引用スタイル

Yamada, M., Sokoda, T., Uehara, T., Suzuki, H., Takenouchi, T., Yagihashi, T., Maruo, Y., & Kosaki, K. (2020). Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript. American Journal of Medical Genetics, Part A, 182(12), 3064-3067. https://doi.org/10.1002/ajmg.a.61892

Yamada, M, Sokoda, T, Uehara, T, Suzuki, H, Takenouchi, T, Yagihashi, T, Maruo, Y & Kosaki, K 2020, 'Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 3064-3067. https://doi.org/10.1002/ajmg.a.61892

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title = "Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript",

author = "Mamiko Yamada and Tatsuyuki Sokoda and Tomoko Uehara and Hisato Suzuki and Toshiki Takenouchi and Tatsuhiko Yagihashi and Yoshihiro Maruo and Kenjiro Kosaki",

note = "Funding Information: We thank Ms. Chika Kanoe, Ms. Yumi Obayashi and Ms. Keiko Tsukue for their technical assistance in the preparation of this article. This work was supported by Initiative on Rare and Undiagnosed Diseases (Grant Number JP17ek0109151) from the Japan Agency for Medical Research and Development, and by JSPS KAKENHI, Grant‐in‐Aid for Early‐Career Scientists (Grant Number JP19K17342). Funding Information: Grant‐in‐Aid for Early‐Career Scientists by JSPS KAKENHI, Grant/Award Number: JP19K17342; Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development, Grant/Award Number: JP17ek0109151 Funding information ",

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AU - Sokoda, Tatsuyuki

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AU - Suzuki, Hisato

AU - Takenouchi, Toshiki

AU - Yagihashi, Tatsuhiko

AU - Maruo, Yoshihiro

AU - Kosaki, Kenjiro

N1 - Funding Information: We thank Ms. Chika Kanoe, Ms. Yumi Obayashi and Ms. Keiko Tsukue for their technical assistance in the preparation of this article. This work was supported by Initiative on Rare and Undiagnosed Diseases (Grant Number JP17ek0109151) from the Japan Agency for Medical Research and Development, and by JSPS KAKENHI, Grant‐in‐Aid for Early‐Career Scientists (Grant Number JP19K17342). Funding Information: Grant‐in‐Aid for Early‐Career Scientists by JSPS KAKENHI, Grant/Award Number: JP19K17342; Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development, Grant/Award Number: JP17ek0109151 Funding information

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