DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

Sickle cell disease (SCD) is a debilitating monogenic blood disorder with a highly variable phenotype characterized by severe pain crises, acute clinical events, and early mortality. Interindividual variation in fetal hemoglobin (HbF) expression is a known and potentially heritable modifier of SCD s...

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Vydané v:	Proceedings of the National Academy of Sciences - PNAS Ročník 105; číslo 33; s. 11869
Hlavní autori:	Lettre, Guillaume, Sankaran, Vijay G, Bezerra, Marcos André C, Araújo, Aderson S, Uda, Manuela, Sanna, Serena, Cao, Antonio, Schlessinger, David, Costa, Fernando F, Hirschhorn, Joel N, Orkin, Stuart H
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 19.08.2008
Predmet:	Adolescent Anemia, Sickle Cell - complications Anemia, Sickle Cell - epidemiology Anemia, Sickle Cell - genetics Anemia, Sickle Cell - metabolism Carrier Proteins - genetics Carrier Proteins - metabolism Cohort Studies Female Fetal Hemoglobin - genetics Fetal Hemoglobin - metabolism Genes, myb - genetics Genotype Globins - genetics Globins - metabolism Humans Male Nuclear Proteins - genetics Nuclear Proteins - metabolism Pain - complications Pain - epidemiology Pain - genetics Pain - metabolism Polymorphism, Single Nucleotide - genetics
ISSN:	1091-6490, 1091-6490
On-line prístup:	Zistit podrobnosti o prístupe
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