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

• প্রধান লেখক: Arati Nandan Saptarshi (লেখক), Rashmi K. Dongerdiye (লেখক), Tejashree Anil More (লেখক), Prabhakar S. Kedar (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2023-07-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...