Article
Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency.
Thrombosis and haemostasis - 1 Feb 1999
Pung-amritt P, Poort S R, Vos H L, Bertina R M, Mahasandana C, Tanphaichitr V S, Veerakul G, Kankirawatana S, Suvatte V
Abstract excerpt
Homozygous or compound heterozygous protein S (PS) deficiency is a very rare disorder in the anticoagulant system, that can lead to life-threatening thrombotic complications shortly after birth. This report describes the results of the genetic analysis of the PROS 1 genes in a Thai girl patient. She was reported in 1990 as the first case with homozygous PS deficiency and neonatal purpura fulminans. In the present...
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