De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
We have identified and characterized a Scottish individual with alpha thalassaemia, resulting from a de novo 48 kilobase (kb) deletion from the telomeric flanking region of the alpha globin cluster which occurred as a result of recombination between two misaligned repetitive elements that normally l...
| Κύριοι συγγραφείς: | , , , , , |
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| Μορφή: | Journal article |
| Γλώσσα: | English |
| Έκδοση: |
2003
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