000 02649 a2200817 4500
005 20250517152149.0
264 0 _c20170727
008 201707s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2017.03.012
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aNgcungcu, Thandiswa
245 0 0 _aDuplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cMay 2017
300 _a737-750 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aCase-Control Studies
650 0 4 _aCathepsin B
_xgenetics
650 0 4 _aChromosome Mapping
650 0 4 _aChromosomes, Human, Pair 8
_xgenetics
650 0 4 _aDNA Copy Number Variations
650 0 4 _aDNA Glycosylases
_xgenetics
650 0 4 _aDNA-(Apurinic or Apyrimidinic Site) Lyase
_xgenetics
650 0 4 _aEnhancer Elements, Genetic
650 0 4 _aEpidermis
_xmetabolism
650 0 4 _aEpigenomics
650 0 4 _aErythema
_xepidemiology
650 0 4 _aFemale
650 0 4 _aGene Duplication
650 0 4 _aGene Expression Regulation
650 0 4 _aGenetic Markers
650 0 4 _aHumans
650 0 4 _aKeratinocytes
_xmetabolism
650 0 4 _aKeratosis
_xepidemiology
650 0 4 _aMCF-7 Cells
650 0 4 _aMale
650 0 4 _aNorway
_xepidemiology
650 0 4 _aPedigree
650 0 4 _aSkin Diseases, Genetic
_xepidemiology
650 0 4 _aSouth Africa
_xepidemiology
700 1 _aOti, Martin
700 1 _aSitek, Jan C
700 1 _aHaukanes, Bjørn I
700 1 _aLinghu, Bolan
700 1 _aBruccoleri, Robert
700 1 _aStokowy, Tomasz
700 1 _aOakeley, Edward J
700 1 _aYang, Fan
700 1 _aZhu, Jiang
700 1 _aSultan, Marc
700 1 _aSchalkwijk, Joost
700 1 _avan Vlijmen-Willems, Ivonne M J J
700 1 _avon der Lippe, Charlotte
700 1 _aBrunner, Han G
700 1 _aErsland, Kari M
700 1 _aGrayson, Wayne
700 1 _aBuechmann-Moller, Stine
700 1 _aSundnes, Olav
700 1 _aNirmala, Nanguneri
700 1 _aMorgan, Thomas M
700 1 _avan Bokhoven, Hans
700 1 _aSteen, Vidar M
700 1 _aHull, Peter R
700 1 _aSzustakowski, Joseph
700 1 _aStaedtler, Frank
700 1 _aZhou, Huiqing
700 1 _aFiskerstrand, Torunn
700 1 _aRamsay, Michele
773 0 _tAmerican journal of human genetics
_gvol. 100
_gno. 5
_gp. 737-750
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2017.03.012
_zAvailable from publisher's website
999 _c27127615
_d27127615