Molecular characterization of Hb hamilton hill (HBA2: c.388delC), a novel HBA2 variant generating a premature termination codon and truncated HBA2 chain

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Molecular characterization of Hb hamilton hill (HBA2: c.388delC), a novel HBA2 variant generating a premature termination codon and truncated HBA2 chain

In recent years, the identification of a-thalassemias caused by nondeletional mutations has increased significantly due to the advancement of sensitive molecular genetics tools. We report clinical and experimental data for a novel frameshift mutation caused by a single base deletion at position 388...

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Bibliographic Details
Main Authors:	Qadah, T., Finlayson, J., North, E., Ghassemifar, Reza
Format:	Journal Article
Published:	Informa Healthcare 2015
Online Access:	http://hdl.handle.net/20.500.11937/6946

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