Výsledky vyhledávání - "Megumi Karato"

Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods

Autor: Mika Omote, Akiko Sekiya, Yoshiyuki Wakugawa, Keiko Maruyama, Yasuko Kadohira, Tomoe Hayashi, Moeko Shinohara, Eriko Morishita, Shigeki Ohtake, Shinji Nakao, Itsumi Shimogawara, Megumi Karato, Hidesaku Asakura

Publikováno v: International Journal of Hematology. 93:216-219

An inherited antithrombin deficiency is an autosomal dominant thrombotic disorder. We identified two pedigrees of inherited type I antithrombin deficiency and two responsible mutations in each. A novel 21-22delAA appeared to have caused a frameshift

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6bf3040b94026750b8b4235edd9e91e
https://doi.org/10.1007/s12185-010-0763-x

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

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

Publikováno v: Thrombosis research. 132(2)

Introduction Inherited antithrombin (AT) deficiency is associated with a predisposition to familial venous thromboembolic disease. We analyzed the AT gene in three unrelated patients with an AT deficiency who developed thrombosis. Materials and Metho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7faa981a3ff68dad55bccbe726c6fc
https://pubmed.ncbi.nlm.nih.gov/23809926

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