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Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic...

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Detalles Bibliográficos
Autores principales: Inusa, Baba P. D., Hsu, Lewis L., Kohli, Neeraj, Patel, Anissa, Ominu-Evbota, Kilali, Anie, Kofi A., Atoyebi, Wale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510211/
https://www.ncbi.nlm.nih.gov/pubmed/33072979
http://dx.doi.org/10.3390/ijns5020020