SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT00723567

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes

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)
MeSH:Elliptocytosis, Hereditary
HPO:Elliptocytosis


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


1 R34P

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


HPO: