Genetic and functional analysis of YPEL3 and its link to disease

University Of Oregon, Eugene OR

Investigators

Linked publications & trials

Abstract

? DESCRIPTION (provided by applicant): This project will conduct functional studies in collaboration with the NIH Intramural Undiagnosed Diseases Program (NIH-UDP) to investigate the underlying genetics, biochemistry, cell biology, and pathophysiology of a novel disease that has been linked to a variant of the YPEL3 gene identified through the NIH-UDP.