Sfoglia per Autore "Kaimakis, P."
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HbVar Database of Human Hemoglobin Variants and Thalassemia Mutations: 2007 Update
Giardine, B.; van Baal, S.; Kaimakis, P.; Riemer, C.; Miller, W.; Samara, M.; Kollia, P.; Anagnou, N. P.; Chui, D. H. K.; Wajcman, H.; Hardison, R. C.; Patrinos, G. P. (2007)HbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database (LSDB) developed in 2001 by a multi-center academic effort to provide timely information on the genomic sequence changes leading to hemoglobin variants ... -
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 ...