Article
Evolutionary history of sickle-cell mutation: implications for global genetic medicine.
Human molecular genetics - 26 Apr 2021
Esoh Kevin, Wonkam Ambroise
Abstract excerpt
Resistance afforded by the sickle-cell trait against severe malaria has led to high frequencies of the sickle-cell mutation [HBB; c.20T>A, p.Glu6Val; OMIM: 141900 (HBB-βS)] in most parts of Africa. High-coverage sequencing and genotype data have now confirmed the single African origin of the sickle-cell gene variant [HBB; c.20T>A, p.Glu6Val; OMIM: 141900 (HBB-βS)]. Nevertheless, the classical HBB-like genes...
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