骨格筋型塩化物イオンチャネル遺伝子(CLCN1)の複合ヘテロ接合体変異で重症化したThomsen病
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- Material Type
- 記事
- Author/Editor
- 佐々木 良元高橋 正紀穀内 洋介 他
- Alternative Title
- Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease
- Periodical title
- 臨床神経学 = Clinical neurology / 日本神経学会 編
- No. or year of volume/issue
- 53(4):2013.4
- Volume
- 53
- Issue
- 4
- Pages
- 316-319