Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency
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- 作者：Jun Yamanouchi (1) (2)
Takaaki Hato (1)
Tatsushiro Tamura (1)
Hiroshi Fujiwara (1)
Yoshihiro Yakushijin (1)
Masaki Yasukawa (1) - 刊名：International Journal of Hematology
- 出版年：2009
- 出版时间：November 2009
- 年：2009
- 卷：90
- 期：4
- 页码：537-539
- 全文大小：190KB
- 参考文献：1. Schmidel DK, Tatro AV, Phelps LG, Tomczak JA, Long GL. Organization of the human protein S genes. Biochemistry. 1990;29:7845鈥?2. CrossRef
2. Antonarakis SE, and the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat. 1998;11:1鈥?. CrossRef
3. Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood. 1994;83:683鈥?0.
4. Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, et al. A phenotypically neutral dimorphism of protein S: the substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res. 1993;70:395鈥?03. CrossRef
5. Tsuda H, Urata M, Tsuda T, Wakiyama M, Iida H, Nakahara M, et al. Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency effects on secretion and anticoagulant activity of protein S. Thromb Res. 2002;105:233鈥?. CrossRef
6. Miyata T, Sato Y, Ishikawa J, Okada H, Takeshita S, Sakata T, et al. Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. Thromb Res. 2009;124:14鈥?. CrossRef
7. Villoutreix BO, Dahlback B, Borgel D, Gandrille S, Muller YA. Three-dimensional model of the SHBG-like region of anticoagulant protein S: new structure-function insights. Proteins. 2001;43:203鈥?6. CrossRef
8. Greengard JS, Fernandez JA, Radtke K, Griffin JH. Identification of candidate residues for interaction of protein S with C4b binding protein and activated protein C. Biochem J. 1995;305:397鈥?03. - 作者单位：Jun Yamanouchi (1) (2)
Takaaki Hato (1)
Tatsushiro Tamura (1)
Hiroshi Fujiwara (1)
Yoshihiro Yakushijin (1)
Masaki Yasukawa (1)
1. Departments of Bioregulatory Medicine and Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan
2. Department of Bioregulatory Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, 791-0295, Japan
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