A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major.
作者信息
Angalena R, Prabitha K N, Chaudhary A K, Bashyam M D, Jain S, Dalal A B
出版信息
Int J Lab Hematol. 2010 Oct;32(5):548-9. doi: 10.1111/j.1751-553X.2009.01217.x. Epub 2010 Feb 2.
Abstract
摘要
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