Article
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
Journal of thrombosis and haemostasis : JTH - 1 Oct 2013
Puurunen M, Salo P, Engelbarth S, Javela K, Perola M
Abstract excerpt
BACKGROUND: It has been shown that some antithrombin (AT) activity assays do not correctly detect inherited type II AT deficiency, but erroneously classify these patients as normal. OBJECTIVES: Our aim was to investigate the mutations causing type II AT deficiency and to correlate the AT activity results with the genetic findings. PATIENTS/METHODS: A large population (n = 104; 42 families) of Finnish patients...
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