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Detection of a novel large deletion causing α-thalassemia in South China

✍ Scribed by Jia, Xingyuan; Huang, Rui; Lei, Zhen; Yao, Limei; Wang, Lirong; Li, Ying; Meng, Dahua; Zhou, Yan; Liu, Jingzhong; Zhang, Xue


Book ID
121259500
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
767 KB
Volume
95
Category
Article
ISSN
0014-4800

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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