Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

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...

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Vydáno v:	Proceedings of the National Academy of Sciences - PNAS Ročník 105; číslo 5; s. 1620
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 05.02.2008
Témata:	Adolescent Adult Aged Aged, 80 and over beta-Thalassemia - diagnosis Carrier Proteins - genetics Cohort Studies Female Fetal Hemoglobin - analysis Fetal Hemoglobin - metabolism Gene Frequency Genetic Linkage Genome, Human Humans Italy Male Middle Aged Nuclear Proteins - genetics Phenotype Polymorphism, Single Nucleotide Repressor Proteins Italy
ISSN:	1091-6490, 1091-6490
On-line přístup:	Zjistit podrobnosti o přístupu
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