Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients

Thalassemia is one of the most prevalent genetic disorders worldwide. The present study aimed to explore the mutational spectrum of all hemoglobin (HB) encoding genes and to identify the potentially damaging and pathogenic variants in the beta (β)-thalassemia major patients and thalassemia minor car...

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Detalles Bibliográficos
Autores principales: Ejaz, Samina, Abdullah, Iqra, Usman, Muhammad, Iqbal, Muhammad Arslan, Munawar, Sidra, Khan, Muhammad Irfan, Imtiaz, Nagina, Tahir, Hanniah, Bari, Muhammad Ihsan, Rasool, Tayyaba, Fatima, Aneeza, Anwar, Ramsha, Durrani, Ayman, Hameed, Yasir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425424/
https://www.ncbi.nlm.nih.gov/pubmed/37580329
http://dx.doi.org/10.1038/s41598-023-35481-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425424/
https://www.ncbi.nlm.nih.gov/pubmed/37580329
http://dx.doi.org/10.1038/s41598-023-35481-1

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