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Molecular characterization of a novel 27.6-kb deletion causing α+thalassemia in a Chinese family

✍ Scribed by Xiao-Feng Wei; Xuan Shang; De-Qin He; Ji-Wei Huang; Xin-Hua Zhang; Xiang-Min Xu


Publisher
Springer
Year
2010
Tongue
English
Weight
312 KB
Volume
90
Category
Article
ISSN
0939-5555

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A novel 105 basepair deletion causing ?0
✍ Nopparatana, Chamnong; Saechan, Vannarat; Nopparatana, Chawadee; Pornpatkul, Mal 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 1 views

We identified and characterized a novel beta(0)-thalassemia mutation due to partial deletion of the 5' end beta-globin gene including the mRNA cap site and a part of exon 1. The deletion was precisely 105 basepair (bp) in length extending from position -24 or -25 to +80 or +81 relative to the beta-g