A genetic score for the prediction of beta-thalassemia severity
نویسندگان
چکیده
منابع مشابه
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 the BCL11A). We characterized 54 genetic variants at these five loci robustly associated with the a...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2014
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.2014.113886