title: A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0-thalassaemia homozygotes.
authors.affiliation: Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA, USA.
authors.forename: Zhihua
authors.initials: Z
authors.lastname: Jiang
authors.affiliation: Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA, USA.
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.affiliation: Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA, USA.
authors.forename: John J
authors.initials: JJ
authors.lastname: Farrell
authors.affiliation: Transcription Imaging Consortium, Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, VA, USA.
authors.forename: Zhengjian
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Departments of Pediatrics, Pathology, Genetics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Vincent P
authors.initials: VP
authors.lastname: Schulz
authors.affiliation: Scientific Research Centre, College of Science, University of Duhok, Duhok, Iraq.
authors.forename: Dilan
authors.initials: D
authors.lastname: Albarawi
authors.affiliation: Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA, USA.
authors.forename: Martin H
authors.initials: MH
authors.lastname: Steinberg
authors.affiliation: Department of Pathology and Scientific Research Centre, College of Medicine, University of Duhok, Duhok, Iraq.
authors.forename: Nasir A S
authors.initials: NAS
authors.lastname: Al-Allawi
authors.affiliation: Departments of Pediatrics, Pathology, Genetics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Patrick G
authors.initials: PG
authors.lastname: Gallagher
authors.affiliation: Departments of Medicine, Genetics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Bernard G
authors.initials: BG
authors.lastname: Forget
authors.affiliation: Departments of Medicine, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA, USA.
authors.forename: David H K
authors.initials: DHK
authors.lastname: Chui
mesh_terms: D005319:Fetal Hemoglobin / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016329:Sp1 Transcription Factor / Q000235:genetics*; D014427:Twins; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D016329:Sp1 Transcription Factor; C108209:SP1 protein, human; D005319:Fetal Hemoglobin
keywords: fetal haemoglobin; single nucleotide polymorphism; transcription factor; β-thalassaemia