KCNJ2遺伝子の新規変異~S369X~は輸送系を妨げ、Andersen-Tawil症候群の表現形を限定する
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- Material Type
- 博士論文
- Author/Editor
- Doi, Takahiro
- Author Heading
- Publication, Distribution, etc.
- Publication Date
- 2011-07-25
- Publication Date (W3CDTF)
- 2011
- Alternative Title
- A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome
- Contributor
- 大森, 治紀松田, 文彦坂田, 隆造
- Degree grantor/type
- 京都大学Kyoto University