Shaji, Ramachandran V. ; Gerard, Nathalie ; Krishnamoorthy, Rajagopal ; Srivastava, Alok ; Chandy, Mammen (2002) A novel β-thalassemia mutation in an asian Indian Hemoglobin, 26 (2). pp. 49-57. ISSN 0363-0269
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Official URL: http://www.informapharmascience.com/doi/abs/10.108...
Related URL: http://dx.doi.org/10.1081/HEM-120002940
Abstract
A novel 7 bp deletion in exon 2 of the β-globin gene in a 9-year-old boy originating from the eastern part of India is described. This deletion causes a shift in the reading frame of the β-globin coding sequences, and consequently, a premature translation termination due to the creation of a stop codon at position 86. A slipped strand mispairing during DNA replication repair is proposed as the potential mechanism in generating this small deletion.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Informa Healthcare. |
| ID Code: | 5907 |
| Deposited On: | 19 Oct 2010 10:15 |
| Last Modified: | 29 Jan 2011 06:01 |
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