| ○種別 (必須): | □ | 学術論文 (審査論文)
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| ○言語 (必須): | □ | 英語
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| ○招待 (推奨): |
| ○審査 (推奨): |
| ○カテゴリ (推奨): |
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| ○学究種別 (推奨): |
| ○組織 (推奨): |
| ○著者 (必須): | 1. | (英) Yasui Yumiko (日) (読)
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| 2. | (英) Muranaka Shikibu (日) (読)
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| 3. | 田原 強 ([徳島大学.先端研究推進センター.バイオイメージング研究部門])
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| 4. | (英) Shimizu Ryo (日) (読)
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| 5. | (英) Watanabe Sonoko (日) (読)
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| 6. | (英) Horie Yutaka (日) (読)
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| 7. | (英) Nanba Eiji (日) (読)
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| 8. | (英) Uezato Hiroshi (日) (読)
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| 9. | (英) Takamiyagi Atsushi (日) (読)
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| 10. | (英) Taketani Shigeru (日) (読)
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| 11. | (英) Akagi Reiko (日) (読)
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| ○題名 (必須): | □ | (英) A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria. (日)
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| ○副題 (任意): |
| ○要約 (任意): | □ | (英) We investigated the molecular defect of the ferrochelatase gene in a Japanese patient with erythropoietic protoporphyria (EPP), and identified a novel 16 base pair (574-589) deletion within exon 5. This deletion resulted in a frame-shift mutation and created a premature stop codon at amino acid position 198. The same molecular defect was also identified in his mother and a brother who had symptomatic EPP, but not in his father who was asymptomatic. The subjects with EPP were homozygous for the low expression haplotype, while his father was heterozygous for this haplotype. These results indicate that the combination of a 16 base pair deletion and low expression of the wild-type allelic variant is responsible for EPP in this pedigree. (日)
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| ○キーワード (推奨): | 1. | (英) Adult (日) (読)
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| 2. | (英) Base Sequence (日) (読)
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| 3. | (英) Cells, Cultured (日) (読)
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| 4. | (英) DNA Mutational Analysis (日) (読)
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| 5. | (英) DNA, Complementary (日) (読)
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| 6. | (英) Ferrochelatase (日) (読)
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| 7. | (英) Humans (日) (読)
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| 8. | (英) Male (日) (読)
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| 9. | (英) Molecular Sequence Data (日) (読)
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| 10. | (英) Mutation (日) (読)
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| 11. | (英) Pedigree (日) (読)
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| 12. | (英) Polymorphism, Genetic (日) (読)
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| 13. | (英) Porphyria, Hepatoerythropoietic (日) (読)
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| ○発行所 (推奨): |
| ○誌名 (必須): | □ | Clinical Science (Biochemical Society (Great Britain)/Medical Research Society (Great Britain)/International Society of Hypertension)
(pISSN: 0143-5221, eISSN: 1470-8736)
| ○ISSN (任意): | □ | 0143-5221
ISSN: 0143-5221
(pISSN: 0143-5221, eISSN: 1470-8736) Title: Clinical science (London, England : 1979)Title(ISO): Clin Sci (Lond)Publisher: Portland Press (NLM Catalog)
(Scopus)
(CrossRef)
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| ○巻 (必須): | □ | 102
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| ○号 (必須): | □ | 5
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| ○頁 (必須): | □ | 501 506
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| ○都市 (任意): |
| ○年月日 (必須): | □ | 西暦 2002年 5月 初日 (平成 14年 5月 初日)
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| ○URL (任意): |
| ○DOI (任意): |
| ○PMID (任意): | □ | 11980567 (→Scopusで検索)
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| ○備考 (任意): | 1. | (英) PublicationType: Case Reports (日)
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| 2. | (英) PublicationType: Journal Article (日)
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