Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
National Human Genome Research Institute (NHGRI)
Patients with Gray Platelet Syndrome (GPS) and their unaffected family members will be studied to identify the gene(s) involved in GPS using linkage analysis and gene mapping strategies. Up to 200 individual members of GPS families will be investigated to identify candidate regions of the human genome, which will be further studied using fine mapping and sequence analysis. Characterization of gene(s) involved in GPS could provide important insight into the mechanisms of vesicle formation and protein sorting in human cells.
Age
1–80
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Enrollment in this study will be limited to patients diagnosed with GPS and their unaffected relatives. The diagnosis will be based upon absence or marked reduction of platelet Alpha-granules on electron microscopy.
You may not be if
Patients with reduction in both Alpha and Beta granules will be excluded, since this is probably a separate disease.
