Article
Regulatory dynamics of 11p13 suggest a role for EHF in modifying CF lung disease severity.
Nucleic acids research - 6 Sept 2017
Stolzenburg Lindsay R, Yang Rui, Kerschner Jenny L, Fossum Sara, Xu Matthew, Hoffmann Andrew, Lamar Kay-Marie, Ghosh Sujana, Wachtel Sarah, Leir Shih-Hsing, Harris Ann
Abstract excerpt
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...
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