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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

http://hdl.handle.net/20.500.12000/45906
http://hdl.handle.net/20.500.12000/45906
3044a5f9-3ced-4b1e-bd43-15b21718c812
名前 / ファイル ライセンス アクション
s41439-019-0053-y.pdf s41439-019-0053-y.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-05-27
タイトル
タイトル A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation
言語 en
作成者 Chinen, Yasutsugu

× Chinen, Yasutsugu

en Chinen, Yasutsugu

Nakamura, Sadao

× Nakamura, Sadao

en Nakamura, Sadao

Kaneshi, Takuya

× Kaneshi, Takuya

en Kaneshi, Takuya

Nakayashiro, Mami

× Nakayashiro, Mami

en Nakayashiro, Mami

Yanagi, Kumiko

× Yanagi, Kumiko

en Yanagi, Kumiko

Kaname, Tadashi

× Kaname, Tadashi

en Kaname, Tadashi

Naritomi, Kenji

× Naritomi, Kenji

en Naritomi, Kenji

Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution 4.0
言語 en
権利情報Resource https://creativecommons.org/licenses/by/4.0/
権利情報 https://creativecommons.org/licenses/by/4.0/
内容記述
内容記述タイプ Other
内容記述 Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with SMC1A-associated CdLS with a novel SMC1A truncation mutation (p. Arg499Ter), transposition of the great arteries, and periodic intractable seizures from 40 months of age. A review of the literature revealed that a seizure-free period after birth of at least 15 months is required for these patients to be able to walk, irrespective of the epileptic course.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Springer Nature
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/45906
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41439-019-0053-y
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/s41439-019-0053-y
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2054-345X
収録物名
言語 en
収録物名 Human Genome Variation
書誌情報
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