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First detection of the codons 41–43 (−CTTTG,+A) β-thalassemia mutation in a Chinese patient

✍ Scribed by Can Liao; Dong-Zhi Li; Jian Li

Book ID
105989127
Publisher
Springer
Year
2008
Tongue
English
Weight
93 KB
Volume
87
Category
Article
ISSN
0939-5555

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Initiation codon mutation (ATG → ATA) of
Initiation codon mutation (ATG → ATA) of the β-globin gene causing β-thalassemia in a Swedish family
✍ 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