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A genetic score for the prediction of beta-thalassemia severity

Clinical and hematologic characteristics of beta(β)-thalassemia are determined by several factors resulting in a wide spectrum of severity. Phenotype modulators are: HBB mutations, HBA defects and fetal hemoglobin production modulators (HBG2:g.−158C>T polymorphism, HBS1L-MYB intergenic region and...

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Опубликовано в: :Haematologica
Главные авторы: Danjou, Fabrice, Francavilla, Marcella, Anni, Franco, Satta, Stefania, Demartis, Franca-Rosa, Perseu, Lucia, Manca, Matteo, Sollaino, Maria Carla, Manunza, Laura, Mereu, Elisabetta, Marceddu, Giuseppe, Pissard, Serge, Joly, Philippe, Thuret, Isabelle, Origa, Raffaella, Borg, Joseph, Forni, Gian Luca, Piga, Antonio, Lai, Maria Eliana, Badens, Catherine, Moi, Paolo, Galanello, Renzo
Формат: Artigo
Язык:Inglês
Опубликовано: Ferrata Storti Foundation 2015
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4380717/
https://ncbi.nlm.nih.gov/pubmed/25480500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2014.113886
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