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A novel mutation in the β-globin gene causing β-thalassaemia in a Swedish family

✍ Scribed by Britta Landin; Stig Berglund


Book ID
114792137
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
201 KB
Volume
57
Category
Article
ISSN
0902-4441

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Initiation codon mutation (ATG → ATA) of
✍ 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