一种伴有因子VIII/血管性血友病因子蛋白异常的血管性血友病-于尔根斯综合征变体（作者译）
[A variant of the von Willebrand-Jürgens-syndrome with abnormalities of the factor VIII/von Willebrand factor protein (author's transl)].
作者信息
Hasler K, Böttcher D, Engelhardt R
出版信息
Blut. 1979 Jan 22;38(1):25-34. doi: 10.1007/BF01082925.
PMID:310328
Abstract
A family is reported with a variant of von Willebrand's disease. The members of this family showed a qualitative defect of the factor VII/von Willebrand factor protein. The qualitative defect was characterized by an abnormal electrophoretical mobility of factor VIII-related antigen and an abnormal elution pattern as demonstrated by gelfiltration on Sepharose 4 B. Factor VIII-subunits in these patients were found to be normal by polyacrylamidgelelektrophoresis.
摘要
报道了一个患有血管性血友病变异型的家族。该家族成员表现出因子 VIII/血管性血友病因子蛋白的质量缺陷。这种质量缺陷的特征是 VIII 因子相关抗原的异常电泳迁移率以及通过 Sepharose 4 B 凝胶过滤所显示的异常洗脱模式。通过聚丙烯酰胺凝胶电泳发现这些患者的 VIII 因子亚基正常。
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