The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.
作者信息
Cumming S-A, Halsall D J, Ewan P W, Lomas D A
机构信息
Respiratory Medicine Unit, Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 2XY, UK.
出版信息
J Med Genet. 2003 Oct;40(10):e114. doi: 10.1136/jmg.40.10.e114.
Abstract
摘要
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The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema.遗传性血管性水肿家族中C1抑制剂基因编码区内序列变异对疾病表达和蛋白质功能的影响。
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