http://orcid.org/0000-0002-6683-5348
References
- Thein SL. The molecular basis of β-thalassemia. Cold Spring Harbor Perspect Med. 2013;3(5):a011700.
- Giardine B, Borg J, Curators. The Globin Gene Server, β globin (HBB). Leiden Open Variation Database (LOVD) 2004–2014. Available from: https://lovd.bx.psu.edu/home.php?.
- Kleanthous M. ITHANET portal. Available from: http://www.ithanet.eu/.
- HbVar: A database of human hemoglobin variants and thalassemias. Available from: http://globin.bx.psu.edu/.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
- Thein SL. Dominant β thalassaemia: molecular basis and pathophysiology. Br J Haematol. 1992;80(3):273–277.
- Thein SL. Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable? Br J Haematol. 1999;107(1):12–21.
- de Castro CM, Devlin B, Fleenor DE, et al. A novel β-globin mutation, β Durham-NC [β114 Leu→Pro], produces a dominant thalassemia-like phenotype. Blood. 1994;83(4):1109–1116.
- Kobayashi Y, Fukumaki Y, Komatsu N, et al. A novel globin structural mutant, Showa-Yakushiji (β110 Leu→Pro) causing a β-thalassemia phenotype. Blood. 1987;70(5):1688–1691.
- Podda A, Galanello R, Maccioni L, et al. Hemoglobin Cagliari (β60[E4]Val→Glu): a novel unstable thalassemic hemoglobinopathy. Blood. 1991;77(2):371–375.
- Thein SL, Best S, Sharpe J, et al. Hemoglobin Chesterfield (β28 Leu→Arg) produces the phenotype of inclusion body β thalassemia. Blood. 1991;77(12):2791–2793.
- Coleman MB, Steinberg MH, Adams JG 3rd. Hemoglobin Terre Haute arginine β106. A posthumous correction to the original structure of Hemoglobin Indianapolis. J Biol Chem. 1991;266(9):5798–5800.
- Kazazian HH Jr, Dowling CE, Hurwitz RL, et al. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the β-globin gene. Blood. 1992;79(11):3014–3018.
- Coleman MB, Lu ZH, Smith CM, et al. Two missense mutations in the β-globin gene can cause severe β thalassemia. Hemoglobin Medicine Lake (β32[B14]leucine→glutamine; 98[FG5]valine→methionine). J Clin Invest. 1995;95(2):503–509.
- Croteau SE, Luo HY, Lehmann LE, et al. Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)]. Pediatr Blood Cancer. 2013;60(10):E131–E134.