Article
The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population.
British journal of haematology - 1 Jun 2004
Beauchamp Nicholas J, Dykes Anne C, Parikh Nirzari, Campbell Tait R, Daly Martina E
Abstract excerpt
The molecular basis of protein S (PS) deficiency was investigated in seven of eight donors identified with persistently low plasma PS levels from a survey of PS levels in 3788 Scottish blood donors. PROS1 gene analysis identified at least one defect in six donors. Five were heterozygous for the Heerlen polymorphism predicting a Ser460Pro substitution. Haplotype analysis revealed the possibility that this allele...
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