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Clinical and molecular characterization of a rare 2.4kb deletion causing α+ thalassemia in a Chinese family

✍ Scribed by Lin, Min; Wu, Jiao-Ren; Huang, Yue; Lin, Fen; Zhan, Xiao-Fen; Lin, Chun-Ping; Tong, Xin; Luo, Zhao-Yun; Yang, Hui-Tian; Yang, Li-Ye; Wang, Qian; Zheng, Lei; Zhong, Tian-Yu

Book ID
119194786
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
151 KB
Volume
49
Category
Article
ISSN
1079-9796

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A novel 105 basepair deletion causing ?0
A novel 105 basepair deletion causing ?0-thalassemia in members of a Thai family
✍ 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