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...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal Article |
| Published: |
2012
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| Online Access: | http://hdl.handle.net/20.500.11937/16218 |