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用错配PCR技术检测中国人β-地中海贫血基因突变 被引量:3

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摘要 β-地中海贫血(β-地贫)的分子基础主要为点突变,目前中国β-地贫人群中已发现16种点突变。我们在基因频率调查的基础上,发现我国南方95%以上的β-地贫由5种点突变所致,它们是:codon 41-42(-CTTT)缺失突变,IVS-2 nt 654(C→T)突变,codon
出处 《生物化学与生物物理进展》 SCIE CAS CSCD 北大核心 1992年第5期368-369,共2页 Progress In Biochemistry and Biophysics
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  • 1张基增,Ann NY Acad Sci,1990年,612卷,264页

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  • 1张基增,徐湘民,马维芳,单越新.用反向点杂交快速检测中国人β—地中海贫血基因突变[J].第一军医大学学报,1993,13(1):1-5. 被引量:29
  • 2王亮.建立于PCR基础上的基因突变检测技术进展[J].中华医学遗传学杂志,1995,12(1):30-33. 被引量:5
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