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Thrombospondin 4 (A387P) and Thrombospondin 1 (N700S) Mutations

Thrombospondin is a family of 5 extracellular matrix proteins that
play an important role in cell adhesion and vascular injury,
coagulation and angiogenesis. Thrombospondin deficiency
results in increased activity of matrix metalloproteinase-2 which
causes vulnerability of atherosclerotic plaque. The common
mutation in Tsp 4 (A387P has been linked to increased risk for
coronary artery disease. A missense mutation in Tsp 1 (N700S)
is associated with an odds ration of 11.9 for coronary disease.

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