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Two case reports of inherited antithrombin deficiency: a novel frameshift mutation and a large deletion including all seven exons detected using two methods.
Sekiya, Akiko; Morishita, Eriko; Karato, Megumi; Maruyama, Keiko; Shimogawara, Itsumi; Omote, Mika; Wakugawa, Yoshiyuki; Shinohara, Moeko; Hayashi, Tomoe; Kadohira, Yasuko; Asakura, Hidesaku; Nakao, Shinji; Ohtake, Shigeki.
Afiliação
  • Sekiya A; Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Morishita E; Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan. eriko@med3.m.kanazawa-u.ac.jp.
  • Karato M; Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan. eriko@med3.m.kanazawa-u.ac.jp.
  • Maruyama K; Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Shimogawara I; Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Omote M; Department of Clinical Laboratory Science, Kanazawa University Graduate School, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
  • Wakugawa Y; Department of Clinical Laboratory, Kanazawa University Hospital, Kanazawa, Japan.
  • Shinohara M; Department of Cerebrovascular Disease and Clinical Research Institute, National Hospital Organization, Kyushu Medical Center, Fukuoka, Japan.
  • Hayashi T; Department of Neurology, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
  • Kadohira Y; Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
  • Asakura H; Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
  • Nakao S; Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
  • Ohtake S; Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan.
Int J Hematol ; 93(2): 216-219, 2011 Feb.
Article em En | MEDLINE | ID: mdl-21240680
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Antitrombina III / Éxons / Mutação da Fase de Leitura / Deleção de Genes / Deficiência de Antitrombina III Idioma: En Ano de publicação: 2011 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Antitrombina III / Éxons / Mutação da Fase de Leitura / Deleção de Genes / Deficiência de Antitrombina III Idioma: En Ano de publicação: 2011 Tipo de documento: Article