Article

High-Resolution Melting Curve Analysis as a Tool for Detection of SEC23B Gene Mutation Causing Congenital Dyserythropoietic Anemia Type II in Indian population

2022-02-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>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 <italic>SEC23B </italic>gene. The most common mutation reported in India is c.1385A>G, p.Y462C. There is no simple and cost-effective confirmatory diagnostic test available for CDA, and...

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Literature Corpus work: c8ee6f03-463b-5b1a-b2cb-0b350294e439
DOI: 10.21203/rs.3.rs-1301295/v1

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