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Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene
http://hdl.handle.net/10129/00007173
http://hdl.handle.net/10129/00007173392c21a6-1ffb-4b78-8d32-322030e2627f
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本文 (969.6 kB)
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内容要旨 (183.6 kB)
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審査要旨 (259.1 kB)
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論文要約 (183.6 kB)
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2020-10-27 | |||||
タイトル | ||||||
タイトル | Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the transcription initiation codon of the coproporphyrinogen III oxidase gene | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
資源タイプ | doctoral thesis | |||||
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 | |||||
著者 |
福井, 智久
× 福井, 智久 |
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著者(ヨミ) | ||||||
姓名 | フクイ, トモヒサ | |||||
著者別名 | ||||||
姓名 | Fukui, Tomohisa | |||||
著者所属 | ||||||
弘前大学大学院医学研究科 | ||||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 掲載誌:Journal of dermatological science, | |||||
PubMed番号 | ||||||
識別子タイプ | PMID | |||||
関連識別子 | 33008663 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1016/j.jdermsci.2020.06.006 | |||||
著者版フラグ | ||||||
値 | ETD | |||||
その他のタイトル | ||||||
その他のタイトル | コプロポルフィリノーゲンⅢ酸化酵素遺伝子の開始コドンにホモ接合型ミスセンス変異がみられた軽症の遺伝性コプロポルフィリン症の機序分析 | |||||
資源タイプ | ||||||
値 | Thesis | |||||
学位名 | ||||||
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 | 11101 | |||||
学位授与機関名 | 弘前大学 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2020-09-30 | |||||
学位授与番号 | ||||||
学位授与番号 | 甲2109 |