<p>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.</p>

Family-Based Study on Ulcerative Colitis with Whole Exome Sequencing

1 selected publication including "De novo and rare mutations in the HSPA1L heat shock gene associated wi..." (30 citations)

Family-Based Study on Ulcerative Colitis with Whole Exome Sequencing

De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease