Article
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
Blood - 1 Mar 1992
Cai S P, Eng B, Francombe W H, Olivieri N F, Kendall A G, Waye J S, Chui D H
Abstract excerpt
Two novel beta-thalassemia mutations are described. The first mutation, found in an Italian family, is a G----A substitution in nucleotide (nt) +22 relative to the beta-globin gene Cap site. This mutation creates a cryptic ATG initiation codon, the utilization of which for translation would result in premature termination 36 bp 3' downstream. The second mutation, found in an Irish family, is a T----C substitution...
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