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

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...

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Hoofdauteurs: Arati Nandan Saptarshi (Auteur), Rashmi K. Dongerdiye (Auteur), Tejashree Anil More (Auteur), Prabhakar S. Kedar (Auteur)
Formaat: Boek
Gepubliceerd in: BMC, 2023-07-01T00:00:00Z.
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