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Antithrombin Aomori : Identification of a Point Mutation Resulting in Arg^<393> - His Substitution
http://hdl.handle.net/10191/33214
http://hdl.handle.net/10191/3321426dd416e-e3e8-49db-8885-cf35e0a6132c
名前 / ファイル | ライセンス | アクション |
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43(3)_157-163.pdf (728.6 kB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2015-08-31 | |||||
タイトル | ||||||
タイトル | Antithrombin Aomori : Identification of a Point Mutation Resulting in Arg^<393> - His Substitution | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Antithrombin Aomori : Identification of a Point Mutation Resulting in Arg^<393> - His Substitution | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | antithrombin | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | reactive site | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | heparin binding site | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | thrombosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | polymerase chain reaction | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
著者 |
Hayashi, Tomohiro
× Hayashi, Tomohiro× Kamijo, Mikiko× Okushima, Toshimi× Tsuji, Hajime× Masuda, Haruchika× Nakagawa, Katsumi× Nakagawa, Masao× Niiya, Kenji× Sakuragawa, Nobuo |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Abnormal antithrombin(AT), designated antithrombin Aomori, is a functionally inactive AT molecule associated with thrombotic disease. Functional analyses of a patient's plasma showed that the antithrombin activity as well as heparin cofactor activity decreased to approximately half of that of control plasma, suggesting that the AT in the patient's plasma contained a variant AT molecule with impaired antithrombin activity. The elution fractions of the patient's plasma from a heparin-Sepharose column showed two major AT peaks. The first peak with obvious antithrombin activity was eluted at a position similar to the control plasma. The second peak with impaired antithrombin activity was eluted at a higher concentration of sodium chloride, indicating that the variant AT has an increased affinity for heparin. Genomic DNA from peripheral white blood cells was prepared for polymerase chain reaction (PCR), and amplified PCR fragments were sequenced. A codon substitution of CGT(Arg^<393>- CAT(His) was observed in the exon 6 of the AT gene, demonstrating a heterozygous Type II AT deficiency with P1 reactive site variant. This patient represents the first case of a reactive site variant of AT in a Japanese family. | |||||
書誌情報 |
Acta medica et biologica en : Acta medica et biologica 巻 43, 号 3, p. 157-163, 発行日 1995-09 |
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出版者 | ||||||
出版者 | Niigata University School of Medicine | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 05677734 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00508361 | |||||
著者版フラグ | ||||||
値 | publisher |