SNPMiner Trials (Home Page)
Report for Clinical Trial NCT00723567
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
The purpose of this study is to find a gene or its mutation (an altered gene) that puts
individuals at risk for developing HE or HPP.
NCT00723567 Hereditary Elliptocytosis (HE) Hereditary Pyropoikilocytosis (HPP)
Primary Outcomes
Measure: Identify a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP Time: After sample is obtained
Time Perspective: Prospective
Cohort
There is one SNP
SNPs
These mutations
were also present in his brother and daughter who have HE, while another son, who had
Arg34Pro, but not LELY has repeatedly confirmed normal morphology. --- Arg34Pro ---
HPO Nodes