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

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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Bibliographic Details
Main Authors: Arati Nandan Saptarshi, Rashmi K. Dongerdiye, Tejashree Anil More, Prabhakar S. Kedar
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Italian Journal of Pediatrics
Subjects:
Congenital dyserythropoietic anemia
High-resolution melting curve
Sanger sequencing
Online Access:https://doi.org/10.1186/s13052-023-01493-w

Internet

https://doi.org/10.1186/s13052-023-01493-w

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