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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 01 Acta medica et biologica
  4. Vol.43 No.3

Antithrombin Aomori : Identification of a Point Mutation Resulting in Arg^<393> - His Substitution

http://hdl.handle.net/10191/33214
http://hdl.handle.net/10191/33214
26dd416e-e3e8-49db-8885-cf35e0a6132c
名前 / ファイル ライセンス アクション
43(3)_157-163.pdf 43(3)_157-163.pdf (728.6 kB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
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

WEKO 53067

Hayashi, Tomohiro

Search repository
Kamijo, Mikiko

× Kamijo, Mikiko

WEKO 53068

Kamijo, Mikiko

Search repository
Okushima, Toshimi

× Okushima, Toshimi

WEKO 53069

Okushima, Toshimi

Search repository
Tsuji, Hajime

× Tsuji, Hajime

WEKO 53070

Tsuji, Hajime

Search repository
Masuda, Haruchika

× Masuda, Haruchika

WEKO 53071

Masuda, Haruchika

Search repository
Nakagawa, Katsumi

× Nakagawa, Katsumi

WEKO 53072

Nakagawa, Katsumi

Search repository
Nakagawa, Masao

× Nakagawa, Masao

WEKO 53073

Nakagawa, Masao

Search repository
Niiya, Kenji

× Niiya, Kenji

WEKO 53074

Niiya, Kenji

Search repository
Sakuragawa, Nobuo

× Sakuragawa, Nobuo

WEKO 53075

Sakuragawa, Nobuo

Search repository
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
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
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