A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype.
We have characterized a newly identified 16.6 kb deletion which removes a significant proportion of the human alpha-globin cluster including the psizeta1, alpha(D), psialpha1 and alpha2-globin genes but leaves the duplicated alpha1 gene intact. This complicated rearrangement results from a combinati...
| Hauptverfasser: | , , , , , , |
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| Format: | Journal article |
| Sprache: | English |
| Veröffentlicht: |
2008
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