Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population

• Main Authors: Arati Nandan Saptarshi (Author), Rashmi K. Dongerdiye (Author), Tejashree Anil More (Author), Prabhakar S. Kedar (Author)
• פורמט: ספר
• יצא לאור: BMC, 2023-07-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Congenital dyserythropoietic anemias (CDAs) are a very rare and heterogeneous group of disorders characterized by ineffective erythropoiesis. CDA II is caused by mutations in the SEC23B gene. The most common mutation reported in India is c.1385 A > G, p.Y462C. There is no simp...