✦ LIBER ✦

Antithrombin deficiency in three Japanese families: One novel and two reported point mutations in the antithrombin gene

✍ Scribed by Maruyama, Keiko; Morishita, Eriko; Karato, Megumi; Kadono, Tadaaki; Sekiya, Akiko; Goto, Yukie; Sato, Tomomi; Nomoto, Haruka; Omi, Wataru; Tsuzura, Sachie; Imai, Hidenori; Asakura, Hidesaku; Ohtake, Shigeki; Nakao, Shinji

Book ID: 124116331
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 365 KB
Volume: 132
Category: Article
ISSN: 0049-3848
DOI: 10.1016/j.thromres.2013.06.001

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular bases of antithrombin deficien

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene

✍ Véronique Picard; Ulrike Nowak-Göttl; Christine Biron-Andreani; Marc Fouassier; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB

## Antithrombin (AT) is a major physiological inhibitor of hemostasis. We report 22 novel antithrombin gene (SERPINC1) mutations associated with antithrombin deficiency in 17 French and five German families. They were all present at the heterozygous state. Nine missense mutations accounted for typ

Molecular basis of antithrombin deficien

Molecular basis of antithrombin deficiency in four Japanese patients with antithrombin gene abnormalities including two novel mutations

✍ Mayu Kyotani; Kaoru Okumura; Akira Takagi; Takashi Murate; Koji Yamamoto; Tadash 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 1 views

Erratum: Molecular bases of antithrombin

Erratum: Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene

✍ Véronique Picard; Ulrike Nowak-Göttl; Christine Biron-Andreani; Marc Fouassier; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB

Characterization of two novel mutations

Characterization of two novel mutations of the antithrombin gene observed in Japanese thrombophilic patients

✍ Masako Kurihara; Kumiko Watanabe; Sumiko Inoue; Yui Wada; Miyuki Ono; Machiko Wa 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 245 KB

Five Novel and four recurrent point muta

Five Novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis

✍ Keiko Nagaizumi; Hiroshi Inaba; Kagehiro Amano; Midori Suzuki; Morio Arai; Katsu 📂 Article 📅 2003 🏛 Carden Jennings Publishing 🌐 English ⚖ 417 KB

Three case reports of inherited antithro

Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation

✍ Haoyu Deng, Wei Shen, Yi Gu, Xiong Ma, Jiwei Zhang, Lan Zhang 📂 Article 📅 2012 🏛 Springer US 🌐 English ⚖ 673 KB