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Paper Details

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Am J Hum Genet
26
2017
15, 2, 7, 8p23, CTSB, Enhancer Region, FDFT1, KWE, KWE critical region, Keratolytic Winter Erythema, Keratolytic winter erythema, MCF-7 cells, NEIL2, RNA polymerase II, SNP array, active enhancer element, autosomal-dominant skin disorder, cathepsin B, cell lines, chromatin, cysteine, cysteine protease, enhancer, enhancer element, epidermal keratinocytes, epidermal peeling, gene, keratinocyte, non-coding genomic region, normal differentiating keratinocytes, palmoplantar erythema, tandem duplications
Author NameAffiliation
Robert BruccoleriNovartis Institutes for BioMedical Research
Han G BrunnerRadboud Institute for Molecular Life Sciences, Radboud University Medical Center
Thomas M MorganNovartis Institutes for BioMedical Research
Vidar M SteenCenter for Medical Genetics and Molecular Medicine, Haukeland University Hospital, University of Bergen
Joseph D Szustakowski
Frank StaedtlerNovartis Institutes for BioMedical Research
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