Browsing by Subject "C->G MUTATION"

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Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1

Papachatzopoulou, A.; Kaimakis, P.; Pourfarzad, F.; Menounos, P. G.; Evangelakou, P.; Kollia, P.; Grosveld, F. G.; Patrinos, G. P. (2007)

We report a novel set of genetic markers in the DNasel hypersensitive sites comprising the human P-globin locus chromatin hub (CH), namely HS-111 and 3'HS1. The HS-111 (-21 G>A) and 3'HS1 (+179 C>T) transitions form CH ...