Ontology highlight
ABSTRACT:
SUBMITTER: Agrelo R
PROVIDER: S-EPMC4622951 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Epigenetics 20150101 4
Werner Syndrome (WS) is a rare inherited disease characterized by premature aging and increased propensity for cancer. Mutations in the WRN gene can be of several types, including nonsense mutations, leading to a truncated protein form. WRN is a RecQ family member with both helicase and exonuclease activities, and it participates in several cell metabolic pathways, including DNA replication, DNA repair, and telomere maintenance. Here, we reported a novel homozygous WS mutation (c.3767 C > G) in ...[more]