一种具有新反应中心突变（Arg-444→Leu）的功能失调的C1抑制蛋白。
A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).
作者信息
Frangi D, Aulak K S, Cicardi M, Harrison R A, Davis A E
机构信息
Clinica Medica V, Universita di Milano, Ospedale S. Paolo, Italy.
出版信息
FEBS Lett. 1992 Apr 13;301(1):34-6. doi: 10.1016/0014-5793(92)80204-t.
PMID:1451784
Abstract
A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein (by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC-->CTC) (by sequence analysis of PCR-amplified DNA).
摘要
在一名患有2型遗传性血管性水肿患者的功能失调的C1抑制剂中鉴定出一种P1突变（Arg-444→Leu）。该突变在蛋白质水平（通过对铜绿假单胞菌弹性蛋白酶衍生的反应中心肽进行序列分析）和mRNA水平（CGC→CTC）（通过对PCR扩增的DNA进行序列分析）得以确定。
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