Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

Thandiswa Ngcungcu, Martin Oti, Jan C. Sitek, Bjorn I. Haukanes, Bolan Linghu, Robert Bruccoleri, Tomasz Stokowy, Edward J. Oakeley, Fan Yang, Jiang Zhu, Marc Sultan, Joost Schalkwijk, Ivonne M. J. J. van Vlijmen-Willems, Charlotte von der Lippe, Han G. Brunner, Kari M. Ersland, Wayne Grayson, Stine Buechmann-Moller, Olav Sundnes, Nanguneri NirmalaThomas M. Morgan, Hans van Bokhoven, Vidar M. Steen, Peter R. Hull, Joseph Szustakowski, Frank Staedtler, Huiqing Zhou, Torunn Fiskerstrand, Michele Ramsay

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)737-750
Number of pages14
JournalAmerican Journal of Human Genetics
Volume100
Issue number5
DOIs
Publication statusPublished - 4 May 2017

Keywords

  • ENCODING CYSTATIN-A
  • DNA-SEQUENCING DATA
  • EPIDERMAL DIFFERENTIATION
  • CATHEPSIN-L
  • OUDTSHOORN SKIN
  • ERYTHROKERATOLYSIS-HIEMALIS
  • CHROMOSOME 8P22-P23
  • GENE
  • KERATINOCYTES
  • GENOME

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