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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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| Publié dans: | Int J Neonatal Screen |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
MDPI
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7510211/ https://ncbi.nlm.nih.gov/pubmed/33072979 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns5020020 |
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