Ontology highlight
ABSTRACT:
SUBMITTER: Stolzenburg LR
PROVIDER: S-EPMC5587731 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Stolzenburg Lindsay R LR Yang Rui R Kerschner Jenny L JL Fossum Sara S Xu Matthew M Hoffmann Andrew A Lamar Kay-Marie KM Ghosh Sujana S Wachtel Sarah S Leir Shih-Hsing SH Harris Ann A
Nucleic acids research 20170901 15
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), but are not good predictors of lung phenotype. Genome-wide association studies (GWAS) previously identified additional genomic sites associated with CF lung disease severity. One of these, at chromosome 11p13, is an intergenic region between Ets homologous factor (EHF) and Apaf-1 interacting protein (APIP). Our goal was to determine the functional significance of this region, which being ...[more]