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Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the β-Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran

Up to now, more than 300 pathogenic variants have been identified in the β-globin gene, some of which are categorized as silent mutations that do not change the hematological indices. In the present study, our aim is to introduce the first report of a case with thalassemia intermedia with coinherita...

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Detalles Bibliográficos
Autores principales: Jalali, Hossein, Mahdavi, Mahan, Eslamijouybari, Mohammad, Mahdavi, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10477025/
https://www.ncbi.nlm.nih.gov/pubmed/37671080
http://dx.doi.org/10.1155/2023/9950421