Variant Type 2B von Willebrand Disease; No Responsible Mutations atthe von Willebrand Factor A1 Domain and the Surrounding Region

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概要

• 論文の詳細を見る

• We encountered a patient with variant of type 2B von Willebrand disease (vWD) who showed increased ristocetin-induced platelet aggregation, persistent thrombocytopenia, spontaneous platelet aggregation and normal vWF multimeric pattern in his plasma. However, we could not find any responsible mutations in or around the 505-695 disulfide loop (A1 loop) of the von Willebrand factor (vWF), at which all type 2B vWD candidate mutations have been reported to be clustered. This suggests that an unidentified vWF functional domain facilitating binding to platelet GPIb may exist at a site other than the A1 loop and the surrounding region.

• 新潟大学の論文

著者

• Aizawa Yoshiyasu

  神戸大学 医学部

• Fuse Ichiro

  Division of Hematology and Cardiology, Graduate School of Medical and Dental Science, Niigata Univer

• Fuse I

  Division Of Blood Transfusion Niigata University Medical Hospital

• Higuchi W

  Division Of Bone Marrow Transplantation Niigata University Medicalhospital

• Higuchi Wataru

  Division Of Bacteriology Department Of Infectious Disease Control And International Medicine Niigata

• Yumiko Uesugi

  First Department Of Internal Medicine Niigata University

• Ichiro FUSE

  Division of Blood Transfusion, Niigata University Medical Hospital

• Wataru HIGUCHI

  Division of Bone Marrow Transplantation, Niigata University MedicalHospital

• UESUGI Yumiko

  First Department of Internal Medicine, Niigata University

• FUSE Ichiro

  Division of Blood Transfusion, Niigata University Medical Hospital

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