脊髄小脳変性症6型
出典: フリー百科事典『ウィキペディア(Wikipedia)』 (2023/07/09 04:44 UTC 版)
脊髄小脳変性症6型(Spinocerebellar ataxia type 6、SCA6)とは第19染色体短椀に位置する電位依存性Caチャネルα1Aサブユニット遺伝子(CACNA1A)のCAGリピート伸長により発症する常染色体優性遺伝性の脊髄小脳変性症である。
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- 1 脊髄小脳変性症6型とは
- 2 脊髄小脳変性症6型の概要
- 3 遺伝子検査
- 4 病理
- 5 病態
- 6 トピックス
- 脊髄小脳変性症6型のページへのリンク