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A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband

✍ Scribed by Pawan K. Jain; Andrée M. Dozy; I. C. Verma; Farid F. Chehab


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
301 KB
Volume
3
Category
Article
ISSN
1059-7794

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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