A novel β-thalassemic allele due to a thirteen nucleotide deletion: codons 54–58 (-T ATG GGC AAC CCT)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-008-0658-6.pdf
Reference4 articles.
1. Ko TM, Xu X (1998) Molecular study and prenatal diagnosis of α-and β-thalassemias in Chinese. J Formos Med Assoc 97:5–15
2. Li D, Liao C, Li J et al (2006) Prenatal diagnosis of β-thalassemia by reverse dot–blot hybridization in southern China. Hemoglobin 30:365–370 doi: 10.1080/03630260600755625
3. Liao C, Li Q, Wei J et al (2007) Prenatal control of Hb Bart’s disease in southern China. Hemoglobin 31(4):471–475 doi: 10.1080/03630260701634463
4. Maquat LE (2004) Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5:89–99 doi: 10.1038/nrm1310
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1. A Novel β-Thalassemia Insertion/Frameshift Mutation Between Codons 77/78 (p.Leu78Profs*13 or HBB: c.235_236insC) Observed in a Family in Bangladesh;Hemoglobin;2017-11-02
2. A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia;Hemoglobin;2017-01-02
3. Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family;Hemoglobin;2016-07-03
4. Molecular Spectrum of β-Thalassemia in Fujian Province, Southeastern China;Hemoglobin;2013-05-20
5. The Molecular Basis of -Thalassemia;Cold Spring Harbor Perspectives in Medicine;2013-05-01
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