Identification of a variation in the IVSII of alpha 2 gene and its frequency in the population of Guangxi

文献类型: 外文期刊

第一作者: Pang, Wanrong

作者: Pang, Wanrong;Weng, Xunjin;Long, Ju;Wu, Suping;Sun, Lei;Tang, Weijun;Qiu, Shengying;Zhang, Chenghong;Weng, Xunjin;Ye, Xuehe;Long, Ju;Sun, Lei;Wei, Chunyan;Ye, Xuehe;Chen, Mingli;Long, Ju

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关键词: Thalassemia;MLPA;alpha thalassemia;alpha 2 polymorphism

期刊名称:GENE ( 影响因子:3.688; 五年影响因子:3.329 )

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收录情况: SCI

摘要: Objective: During thalassemia screening, a previously unidentified alpha 2 gene variation in alpha-globin gene cluster was isolated. This variation was distinct from other variations known to confer thalassemia as assessed by conventional thalassemia genotype analysis. Because the sample in the thalassemia screening was positive (MCV = 83.6 ft, MCH = 26.1 pg/cell, Hb = 11.3 g/dL), further analysis was required.

分类号: R394

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