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Hemoglobin genetics: recent contributions of GWAS and gene editing
The β-hemoglobinopathies are inherited disorders resulting from altered coding potential or expression of the adult β-globin gene. Impaired expression of β-globin reduces adult hemoglobin (α(2)β(2)) production, the hallmark of β-thalassemia. A single-base mutation at codon 6 leads to formation of Hb...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5036874/ https://ncbi.nlm.nih.gov/pubmed/27340226 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw170 |
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