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...
| Main Authors: | , , , |
|---|---|
| Format: | Journal Article |
| Published: |
Informa Healthcare
2015
|
| Online Access: | http://hdl.handle.net/20.500.11937/6946 |