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
A novel mutation of the β-globin gene promoter (−102 C>A) and pitfalls in family screening
✍ Scribed by Patricia Aguilar-Martinez; Eric Jourdan; Sophie Brun; Séverine Cunat; Muriel Giansily-Blaizot; Serge Pissard; Jean-François Schved
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 200 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0361-8609
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