Familial Bleeding Disorder Clinical Trial
Official title:
Defect in Cell Stimulation and Unexplained hemorrhagesMarkers Related to Membrane Remodelling in the Prognosis Scott-like Syndormes
Purpose: Identification of the gene(s) involved in plasma membrane remodelling. Identification of the circulating markers affected by the defective membrane remodelling in a collection of families with unexplained provoked hemorrhages and evaluation of their prognosis value in the assessment of the hemostatic cellular response.Hypothesis: Scott syndrome is rare a familial disorder characterized by provoked haemorrages in homozygous-type patients due to isolated membrane remodelling deficiency. Membrane remodelling is necessary for cellular hemostatic responses.
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Observational Model: Family-Based, Time Perspective: Prospective