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β-thalassemia due to A T→A mutation within the ATA box

✍ Scribed by Y.J. Fei; T.A. Stoming; G.D. Efremov; D.G. Efremov; R. Battacharia; J.M. Gonzalez-Redondo; Ç. Altay; A. Gurgey; T.H.J. Huisman


Book ID
117058588
Publisher
Elsevier Science
Year
1988
Tongue
English
Weight
856 KB
Volume
153
Category
Article
ISSN
0006-291X

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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