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- W2395890314 abstract "遗传性抗凝血酶(antithrombin, AT)缺陷症是由AT基因突变引起,可分2型:Ⅰ型主要表现为AT抗原(AT:Ag)和活性(AT:A)水平的同步减低,Ⅱ型由AT结构异常所致[1].国外已报道300余例,基因突变种类超过130种;但国内仅我们报道过1例[2].本文对另一个AT缺陷症家系进行研究,发现此家系为I型遗传性AT缺陷症,由AT基因C2757T杂合突变引起。" @default.
- W2395890314 created "2016-06-24" @default.
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- W2395890314 date "2005-06-22" @default.
- W2395890314 modified "2023-09-26" @default.
- W2395890314 title "[Type I hereditary antithrombin deficiency due to C2757T heterozygotic mutation in antithrombin gene]." @default.
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