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A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India

PURPOSE: Beta thalassemia is one of the most common inherited disorders in India with heterogenous clinical phenotypes from silent carrier to clinically severe ones. Our study aimed to characterize the mutation spectrum in thalassemia patients who are coming to the hospital for follow-up from the we...

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Detalles Bibliográficos
Autores principales: Chauhan, Waseem, Afzal, Mohammad, Zaka-ur-Rab, Zeeba, Noorani, Md Salik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7935337/
https://www.ncbi.nlm.nih.gov/pubmed/33688235
http://dx.doi.org/10.2147/TACG.S294891