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- W998540599 abstract "β珠蛋白基因突变导致的β地中海贫血(简称β地贫)是我国南方常见的遗传病之一,从表现上看属于常染色体隐性遗传,但杂合子亦有轻微贫血症状,其在广东、广西等地区发病率约为3.4%~5.8%。迄今为止,中国已经发现的β地贫突变类型达29种以上。重型β地中海贫血(简称重型β地贫)患儿目前尚没有理想的治疗方法,需要靠输血维持生命,并且常常因为输血并发症死于成年之前。如已知夫妇双方基因突变类型,产前诊断可降低重型β地贫的发生率。" @default.
- W998540599 created "2016-06-24" @default.
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- W998540599 date "2008-11-16" @default.
- W998540599 modified "2023-09-25" @default.
- W998540599 title "β地中海贫血罕见CD37(TGG-TAG)突变一例及产前基因诊断" @default.
- W998540599 doi "https://doi.org/10.3760/cma.j.issn.1007-9408.2008.06.013" @default.
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