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Mutations in HADHB, which Encodes the β-Subunit of Mitochondrial Trifunctional Protein, Cause Infantile Onset Hypoparathyroidism and Peripheral Polyneuropathy
http://hdl.handle.net/2237/21587
http://hdl.handle.net/2237/215870fb96a1c-2c69-4e0a-bff8-e6a2b333467d
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k10811_review.pdf (826.2 kB)
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k10811_publication_list.pdf (45.4 kB)
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k10811_abstract.pdf (781.1 kB)
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k10811_summary.pdf (817.2 kB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2015-04-17 | |||||
タイトル | ||||||
タイトル | Mutations in HADHB, which Encodes the β-Subunit of Mitochondrial Trifunctional Protein, Cause Infantile Onset Hypoparathyroidism and Peripheral Polyneuropathy | |||||
言語 | en | |||||
その他のタイトル | ||||||
その他のタイトル | ミトコンドリア三頭酵素をコードするHADHB遺伝子の変異は乳児期発症の副甲状腺機能低下症と末梢神経障害を引き起こす | |||||
言語 | ja | |||||
著者 |
Naiki, Misako
× Naiki, Misako× 内木, 美紗子 |
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アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_db06 | |||||
タイプ | doctoral thesis | |||||
書誌情報 |
発行日 2015-01-30 |
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学位名 | ||||||
言語 | ja | |||||
学位名 | 博士(医学) | |||||
学位授与機関 | ||||||
学位授与機関識別子Scheme | kakenhi | |||||
学位授与機関識別子 | 13901 | |||||
言語 | ja | |||||
学位授与機関名 | 名古屋大学 | |||||
言語 | en | |||||
学位授与機関名 | Nagoya University | |||||
学位授与年度 | ||||||
学位授与年度 | 2014 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2015-01-30 | |||||
学位授与番号 | ||||||
学位授与番号 | 甲第10811号 | |||||
著者版フラグ | ||||||
値 | none | |||||
URI | ||||||
識別子 | http://hdl.handle.net/2237/21587 | |||||
識別子タイプ | HDL |