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Japanese β°-thalassemia: Molecular characterization of a novel insertion causing a stop codon

✍ Scribed by Oshima, Kazuko; Harano, Teruo; Harano, Keiko

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
288 KB
Volume
52
Category
Article
ISSN
0361-8609

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✦ Synopsis

During a physical checkup, a 42-year-old Japanese man with liver dysfunction was diagnosed as having p-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 TIT 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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✍ Dr. Britta Landin; Olle Rudolphi; BÖRje Ek 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 436 KB 👁 1 views

An initiation codon mutation ATG-ATA of the p-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a p