TY - GEN AU - Ngcungcu,Thandiswa AU - Oti,Martin AU - Sitek,Jan C AU - Haukanes,Bjørn I AU - Linghu,Bolan AU - Bruccoleri,Robert AU - Stokowy,Tomasz AU - Oakeley,Edward J AU - Yang,Fan AU - Zhu,Jiang AU - Sultan,Marc AU - Schalkwijk,Joost AU - van Vlijmen-Willems,Ivonne M J J AU - von der Lippe,Charlotte AU - Brunner,Han G AU - Ersland,Kari M AU - Grayson,Wayne AU - Buechmann-Moller,Stine AU - Sundnes,Olav AU - Nirmala,Nanguneri AU - Morgan,Thomas M AU - van Bokhoven,Hans AU - Steen,Vidar M AU - Hull,Peter R AU - Szustakowski,Joseph AU - Staedtler,Frank AU - Zhou,Huiqing AU - Fiskerstrand,Torunn AU - Ramsay,Michele TI - Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families SN - 1537-6605 PY - 2017///0727 KW - Case-Control Studies KW - Cathepsin B KW - genetics KW - Chromosome Mapping KW - Chromosomes, Human, Pair 8 KW - DNA Copy Number Variations KW - DNA Glycosylases KW - DNA-(Apurinic or Apyrimidinic Site) Lyase KW - Enhancer Elements, Genetic KW - Epidermis KW - metabolism KW - Epigenomics KW - Erythema KW - epidemiology KW - Female KW - Gene Duplication KW - Gene Expression Regulation KW - Genetic Markers KW - Humans KW - Keratinocytes KW - Keratosis KW - MCF-7 Cells KW - Male KW - Norway KW - Pedigree KW - Skin Diseases, Genetic KW - South Africa N1 - Publication Type: Journal Article UR - https://doi.org/10.1016/j.ajhg.2017.03.012 ER -