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A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report

INTRODUCTION: Thalassemia is a genetically complex disorder that evolves from a mutation in the beta chain of hemoglobin. Much work has been done on the common mutations, but some rare mutations have been found that impact and diversify the disease spectrum. CASE PRESENTATION: Our case report is on...

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Detalles Bibliográficos
Autores principales: Rashid, Arsala, Tabassum, Shehroze, Naeem, Aroma, Naveed, Asif, Iqbal, Haris, Tabassum, Shehram, Rafiq, Humera
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793159/
https://www.ncbi.nlm.nih.gov/pubmed/36582856
http://dx.doi.org/10.1016/j.amsu.2022.104918