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Am J Hematol. 1996 May;52(1):39-41.

Japanese beta zero-thalassemia: molecular characterization of a novel insertion causing a stop codon.

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Department of Health Control in Internal Medicine, Nagoya Ekisaikai Hospital, Nagoya City, Japan.


During a physical checkup, a 42-year-old Japanese man with liver dysfunction was diagnosed as having beta-thalassemia. Using molecular biological techniques including PCR, we investigated the chemical basis of the hematological disorder. We found that a frameshift attributable to the insertion of a thymidine into or following the TTT sequence of codon 42 transformed codon 43 (GAG) into a stop codon (TGA). We believe that this mutation has not been previously reported.

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