Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. [electronic resource]
- American journal of human genetics May 2017
- 737-750 p. digital
Publication Type: Journal Article
1537-6605
10.1016/j.ajhg.2017.03.012 doi
Case-Control Studies Cathepsin B--genetics Chromosome Mapping Chromosomes, Human, Pair 8--genetics DNA Copy Number Variations DNA Glycosylases--genetics DNA-(Apurinic or Apyrimidinic Site) Lyase--genetics Enhancer Elements, Genetic Epidermis--metabolism Epigenomics Erythema--epidemiology Female Gene Duplication Gene Expression Regulation Genetic Markers Humans Keratinocytes--metabolism Keratosis--epidemiology MCF-7 Cells Male Norway--epidemiology Pedigree Skin Diseases, Genetic--epidemiology South Africa--epidemiology