REFERENCES
- Forget BG. Molecular mechanisms of β-thalassemia. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, MH Steinberg, BG Forget, DR Higgs, RA Nagel. Cambridge University Press, Cambridge 2001; 252–276
- Steinberg MH. Compound heterozygotes and other sickle hemoglobinopathies. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, MH Steinberg, BG Forget, DR Higgs, RA Nagel. Cambridge University Press, Cambridge 2001; 786–810
- Hardison RC, Chui DHK, Giardine B, Reimer C, Patrinos GP, Anagnou NP, Miller W, Wajcman H. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002; 19(3)225–233,
- Patrinos GP, Giardine B, Riemer C, Miller W, Chui DHK, Anagnou NP, Wajcman H, Hardison RC. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res 2004; 32(database issue)D537–D541,
- Lorey F, Cunningham G, Vichinsky EP, Lubin BH, Witkowska HE, Matsunaga A, Azimi M, Sherwin J, Eastman J, Farina F, Waye JS, Chui DHK. Universal newborn screening for Hb H disease in California. Genet Test 2001; 5(2)93–100
- Cai SP, Wall J, Kan YW, Chehab FF. Reverse dot blot probes for the screening of β-thalassemia mutations in Asians and American Blacks. Hum Mutat 1994; 3(1)59–63
- Patterson M, Walker L, Chui DHK, Cohen AR, Waye JS. Identification of a new β-thalassemia nonsense mutation [codon 59 (AAG→TAG)]. Hemoglobin 2003; 27(3)201–203
- Lin LI, Lin KS, Lin KH, Cheng TY. A novel −32 (C→A) mutant identified in amplified genomic DNA of a Chinese β-thalassemic patient. Am J Hum Genet 1992; 50(1)237–238
- Ponjavic J, Lenhard B, Kai C, Kawai J, Carninci P, Hayashizaki Y, Sandelin A. Transcriptional and structural impact of TATA-initiation site spacing in mammalian core promoters. Genome Biol 2006; 7(8)R78
- Basran RK, Reiss UM, Luo HY, Ware RE, Chui DHK. β-Thalassemia intermedia due to compound heterozygosity for two β-globin gene promoter mutations, including a novel TATA box deletion. Pediatr Blood Cancer 2006, [Epub ahead of print]
- Moi P, Faa V, Marini MG, Asunis I, Ibba G, Cao A, Rosatelli MC. A novel silent β-thalassaemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. Br J Haematol 2004; 126(6)881–884
- Sadiq MF, Eigel A, Horst J. Spectrum of β-thalassemia in Jordan: identification of two novel mutations. Am J Hematol 2001; 68(1)16–22
- Badens C, Jassim N, Martini N, Mattei JF, Elion J, Lena-Russo D. Characterization of a new polymorphism, IVS-I-108 (T→C), and a new β-thalassemia mutation, −27 (A→T), discovered in the course of a prenatal diagnosis. Hemoglobin 1999; 23(4)339–344
- Fattore S, Travi M, Primignani P, Biasi A, Sbrocca F, Mirra N, Ghilardi R, Cantù Rajnoldi A. A novel −27 A→G point mutation in the beta globin gene. Hum Mutat 1999; 13(4)340
- Antonarakis SE, Orkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH, Jr. β-Thalassemia in American Blacks: novel mutations in the “TATA” box and an acceptor splice site. Proc Natl Acad Sci USA 1984; 81(4)1154–1158
- Orkin SH, Sexton JP, Cheng TC, Goff SC, Giardina PJ, Lee JI, Kazazian HH, Jr. ATA box transcription mutation in β-thalassemia. Nucleic Acids Res 1983; 11(14)4727–4734
- Orkin SH, Antonarakis SE, Kazazian HH, Jr. Base substitution at position −88 in a β-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. J Biol Chem 1984; 259(14)8679–8691