Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome

• 主要な著者: Milen Minkov (著者), Petra Zeitlhofer (著者), Andreas Zoubek (著者), Leo Kager (著者), Simon Panzer (著者), Oskar A. Haas (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2021-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Background: Bernard-Soulier Syndrome (BSS) is a rare autosomal recessive bleeding disorder with large platelets and thrombocytopenia. It is caused by homozygous or compound heterozygous mutations in the GP1BA, GP1BB, or GP9 genes, which together encode the platelet surface receptor glycoprotein comp...