Article
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Proceedings of the National Academy of Sciences of the United States of America - 5 Feb 2008
Uda Manuela, Galanello Renzo, Sanna Serena, Lettre Guillaume, Sankaran Vijay G, Chen Weimin, Usala Gianluca, Busonero Fabio, Maschio Andrea, Albai Giuseppe, Piras Maria Grazia, Sestu Natascia, Lai Sandra, Dei Mariano, Mulas Antonella, Crisponi Laura, Naitza Silvia, Asunis Isadora, Deiana Manila, Nagaraja Ramaiah, Perseu Lucia, Satta Stefania, Cipollina Maria Dolores, Sollaino Carla, Moi Paolo, Hirschhorn Joel N, Orkin Stuart H, Abecasis Gonçalo R, Schlessinger David, Cao Antonio
Abstract excerpt
beta-Thalassemia and sickle cell disease both display a great deal of phenotypic heterogeneity, despite being generally thought of as simple Mendelian diseases. The reasons for this are not well understood, although the level of fetal hemoglobin (HbF) is one well characterized ameliorating factor in both of these conditions. To better understand the genetic basis of this heterogeneity, we carried out genome-wide...
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