英语翻译一、We describe 4 unrelated patients with a mutation in ex

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英语翻译
一、We describe 4 unrelated patients with a mutation in exon 2 of PRF1 gene and 1 patient with a mutation in exon 3; all mutations were in the coding region of PRF1 and all but one gene carried also a polymorphism in exon 3.
二、Perforin consists of a leader and a lytic peptide,2 regions of low
homology,a conserved amphipathic α-helix,an EGF-like domain,a C2 domain,and a cleavable C terminus.
三、Of the 75 patients with acquired aplastic anemia examined,3 novel,nonsynonymous mutations were identified in PRF1 in 5 patients (Document S1).

一,我们描述4外显子2 PRF1基因,1例病人在3外显子突变突变无关的患者,所有的突变,其中以PRF1编码区和基因只有一个外显子也进行3的多态性.
二,穿孔由一个领导者和裂解肽,2个地区的低
同源性,保守两性α-螺旋结构,一表皮生长因子样域,C2结构域和一个C端裂解.
三,与再生障碍性贫血75例检查,3个新,非同义突变被确定PRF1 5例（文件中一）.

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