Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation

Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation
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DOI:
10.1111/j.1365-2141.2004.05180.x
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发表时间:
2004-10-01
影响因子:
6.5
通讯作者:
Mumford, AD
Mumford, AD
中科院分区:
医学2区
文献类型:
--
作者:
Jones, DW;Russell, G;Mumford, AD

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An elderly patient with no abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT). Preincubation of plasma with aPTT reagent caused shortening of the abnormal clotting time. Plasma prekallikrein (PK) activity and antigen were