Molecular and cellular characterization of a new a-Thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon

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Molecular and cellular characterization of a new a-Thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon

The identification of a-thalassemia (a-thal) due to point mutations has been increasing significantly with the advancement of molecular diagnostic tools. We describe here the molecular and cellular characteristics of the thalassemia mutation HBA2:c.94A>C, a novel point mutation affecting the...

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Bibliographic Details
Main Authors:	Qadah, T., Finlayson, J., Newbound, C., Pell, N., Pascoe, M., Greenwood, L., Holmes, P., Grey, D., Beilby, J., Ghassemifar, Reza
Format:	Journal Article
Published:	2012
Online Access:	http://hdl.handle.net/20.500.11937/16218

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