Ontology highlight
ABSTRACT:
SUBMITTER: Stuart BD
PROVIDER: S-EPMC4414891 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Nature genetics 20150413 5
Idiopathic pulmonary fibrosis (IPF) is an age-related disease featuring progressive lung scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of familial kindreds with pulmonary fibrosis. Gene burden analysis comparing 78 European cases and 2,816 controls implicated PARN, an exoribonuclease with no previous connection to telomere biology or disease, with five new heterozygous damaging mutations in unrelated cases and none in controls (P = 1.3 × 10(-8)); mutations were ...[more]