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...
Egile Nagusiak: | , , , , , , |
---|---|
Formatua: | Journal article |
Hizkuntza: | English |
Argitaratua: |
2008
|