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BJ Padanilam, AE Felice and TH Huisman
Restriction endonuclease mapping defined a partial deletion of about 1.35
kb in the beta-globin gene of a black American patient with hemoglobin
S-beta zero-thalassemia and in his uncle with a beta zero- thalassemia
trait. The 5' endpoint of the deletion is about 600 bases upstream from the
cap site, and the 3' endpoint lies within about 500 bases from the 5'
splice junction of the second intervening sequence. The deletion is
different from that of a previously reported Indian beta zero-thalassemia
allele, where 0.6 kb is deleted at the 3' end of the beta-globin gene.
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