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
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New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families
✍ Scribed by Shiping Cai; Farid F. Chehab
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 177 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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An abnormal hemoglobin with increased oxygen affinlty, Hb Maim6 [a,p297(FG4)His-Gln], was found to cause erythrocytosis In two apparently unrelated Swedish families. Direct nucieotide sequencing of amplitled DNA demonstrated a CACXAA substitutlon In one family and a CAC-CAG substitution in the other