Article
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.
Human mutation - 1 Jul 2008
Ten Kate Min Ki, Platteel Mathieu, Mulder Rene, Terpstra Peter, Nicolaes Gerry A F, Reitsma Pieter H, van der Steege Gerrit, van der Meer Jan
Abstract excerpt
Hereditary protein S (PS) deficiency predisposes to venous thrombosis. Previously, we demonstrated a difference in risk of venous thrombosis between PS deficiency type I and type III. We used direct sequencing, multiplex ligation-dependent probe amplification (MLPA), and linkage analysis to study whether this difference could be explained by molecular heterogeneity. The study contained two sets of families with...
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