Although some cases of the syndrome of hereditary persistence of fetal hemoglobin (HPFH) have been correlated with mutations causing a change in the binding of trans-acting factors to DNA sequences flanking the 7-globin gene, this mechanism has not been described in pthalassemias upstream of the can
โฆ LIBER โฆ
Analysis of human globin gene mutations that impair binding to the hemoglobin stabilizing protein
โ Scribed by Yu, X.; Mollan, T. L.; Butler, A.; Gow, A. J.; Olson, J. S.; Weiss, M. J.
- Book ID
- 118251108
- Publisher
- American Society of Hematology
- Year
- 2009
- Tongue
- English
- Weight
- 827 KB
- Volume
- 113
- Category
- Article
- ISSN
- 0006-4971
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Single residue mutations in proteins are known to affect protein stability and function. As a consequence, they can be disease associated. Available computational methods starting from protein sequence/structure can predict whether a mutated residue is or not disease associated and whether it is pro