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[Beta-thalassemia major caused by compound heterozygosity for +40 to +43(-AAAC), IVS-2-654 (C to T) and codon 41/42 (-TCTT)].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2008

Hu Zhao-hui, Liu Yuan-li, Zeng Zheng-yu, Zhang Xiao-lu, Zhu Qing-yi

Abstract excerpt

OBJECTIVE: To report the analysis of a rare beta-thalassemia ternary heterozygote [+40 to +43(-AAAC)*CD41/42(-TTCT)*IVS-2-654] causing beta-thalassemia major in a Chinese. METHODS: Using PCR-ASO probe hybridization analysis to scan 17 known types of beta-thalassemia mutations, and gene cloning and DNA sequencing to identify the underlying causative mutation. RESULTS: Reverse dot blot (RDB) analysis showed that...

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PMID: 18683140

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