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
De novo initiation codon mutation (ATG→ACG) of the β-globin gene causing β-thalassemia in a swiss family
✍ Scribed by P. Beris; R. Darbellay; D. Speiser; V. Kirchner; P. A. Miescher
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 562 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0361-8609
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We present a case of -thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the -globin gene initiation codon (ATG→AAG) which s
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