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

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 simple and c...

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Detalles Bibliográficos
Autores principales: Saptarshi, Arati Nandan, Dongerdiye, Rashmi K., More, Tejashree Anil, Kedar, Prabhakar S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350259/
https://www.ncbi.nlm.nih.gov/pubmed/37455305
http://dx.doi.org/10.1186/s13052-023-01493-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350259/
https://www.ncbi.nlm.nih.gov/pubmed/37455305
http://dx.doi.org/10.1186/s13052-023-01493-w

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