Beta-thalassemia in Chinese--analysis of polymorphic restriction site haplotypes in the beta-globin gene cluster.
作者信息
Huang S Z, Kazazian H H, Waber P G, Luo H Y, Cai R L, Wang M Q
出版信息
Chin Med J (Engl). 1985 Dec;98(12):881-6.
PMID:3009101
Abstract
摘要
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Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.由于IVS 1序列供体位点共有序列中的新突变导致的β地中海贫血，该突变产生了一个限制性酶切位点。
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引用本文的文献
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Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.为什么有些遗传疾病很常见？通过对珠蛋白基因变异进行分子分析来区分选择与其他过程。
Hum Genet. 1993 Mar;91(2):91-117. doi: 10.1007/BF00222709.
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The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.中国人群和美国黑人中相同的“TATA”盒β地中海贫血突变：突变独立起源的又一实例
Hum Genet. 1986 Oct;74(2):162-4. doi: 10.1007/BF00282081.
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