Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding

• Glavni autori: Fang-Mei Luo (Autor), Liang-Liang Fan (Autor), Yue Sheng (Autor), Yi Dong (Autor), Lv Liu (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2021-06-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Inherited macrothrombocytopenia (IMTP) is a rare disorder characterized by a reduced platelet count and abnormally large platelets. The main clinical symptom of IMTP is mild bleeding in some patients. At present, more than 30 genes have been identified in patients with syndromic and non-syndromic IM...