Ontology highlight
ABSTRACT:
SUBMITTER: Stadhouders R
PROVIDER: S-EPMC3973089 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Stadhouders Ralph R Aktuna Suleyman S Thongjuea Supat S Aghajanirefah Ali A Pourfarzad Farzin F van Ijcken Wilfred W Lenhard Boris B Rooks Helen H Best Steve S Menzel Stephan S Grosveld Frank F Thein Swee Lay SL Soler Eric E
The Journal of clinical investigation 20140310 4
Genetic studies have identified common variants within the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q that are associated with elevated fetal hemoglobin (HbF) levels and alterations of other clinically important human erythroid traits. It is unclear how these noncoding sequence variants affect multiple erythrocyte characteristics. Here, we determined that several HBS1L-MYB intergenic variants affect regulatory elemen ...[more]