Study

Family-Based Study on Ulcerative Colitis with Whole Exome Sequencing

Study ID Alternative Stable ID Type
phs001251 Family

Study Description

Genetic risk factors for ulcerative colitis are not well understood. We performed a family-based whole exome sequencing analysis to identify potential causal mutations. In the proband, we found a heterozygous de novo mutation in the gene HSPA1L. Our results indicate that the de novo mutation in HSPA1L is associated with ulcerative colitis.

Archive Link Archive Accession
dbGaP phs001251

Who archives the data?

There are no publications available