Shaji, Ramachandran V. ; Gerard, Nathalie ; Krishnamoorthy, Rajagopal ; Srivastava, Alok ; Chandy, Mammen (2002) A NOVEL β-THALASSEMIA MUTATION IN AN ASIAN INDIAN Hemoglobin, 26 (1). pp. 49-57. ISSN 0363-0269
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Official URL: http://doi.org/10.1081/HEM-120002940
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 UK Limited |
| ID Code: | 132665 |
| Deposited On: | 21 Dec 2022 03:47 |
| Last Modified: | 21 Dec 2022 03:47 |
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